Medicine › Pediatrics, Perinatology and Child Health

Fetal and Pediatric Neurological Disorders

Works Count: 28593

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This cluster of papers focuses on the development, disorders, and imaging techniques related to the fetal brain. It covers topics such as fetal MRI, cerebral and cerebellar development, corpus callosum agenesis, prenatal diagnosis of brain abnormalities, neuroimaging methods, genetic classification of malformations, and conditions like ventriculomegaly and pontocerebellar hypoplasia.

Keywords

Fetal MRI; Cerebral Development; Neurosonography; Corpus Callosum Agenesis; Cerebellar Malformations; Prenatal Diagnosis; Neuroimaging; Genetic Classification; Ventriculomegaly; Pontocerebellar Hypoplasia

Sex differences in the corpus callosum of the living human being

1991-04-01

LS Allen , MF Richey , YM Chai +1 more

The sexual dimorphism of the corpus callosum has remained controversial since the original report by de Lacoste-Utamsing and Holloway in 1982, for several reasons: (1) measurements have been performed in … The sexual dimorphism of the corpus callosum has remained controversial since the original report by de Lacoste-Utamsing and Holloway in 1982, for several reasons: (1) measurements have been performed in a variety of ways in different laboratories, in part because published reports frequently do not describe the methodology in detail; (2) despite known age-related changes during both childhood and adulthood, no investigators have explicitly age-matched subjects; and (3) the size and shape of corpora callosa vary considerably among individuals, requiring large sample sizes to demonstrate significant sex differences. Therefore, we have examined magnetic resonance images for 24 age-matched children and 122 age-matched adults for possible sex differences in the corpus callosum. While we observed a dramatic sex difference in the shape of the corpus callosum, there was no conclusive evidence of sexual dimorphism in the area of the corpus callosum or its subdivisions. Utilizing several criteria, there were significant sex differences in shape: subjective evaluation indicated that the posterior region of the corpus callosum, the splenium, was more bulbous shaped in females as a group and in women, and more tubular-shaped in males as a group and in men; mathematical evaluation confirmed this observation in that the maximum width of the splenium was significantly greater in women than in men, and that the percentage by which the average width of the splenium was greater than that of the adjacent corpus callosum was significantly greater in females than in males. However, sex differences in bulbosity did not reach significance in children (aged 2-16 yr). In contrast, among the area measurements of the corpus callosum and 22 subdivisions, only 1 exhibited a significant sex difference, which would be expected by chance. The area of the corpora callosa increased significantly with age in children and decreased significantly with age in adults. In adults, the midsagittal surface area of the cerebral cortex decreased significantly with age in women but not in men. These anatomical sex differences could, in part, underlie gender-related differences in behavior and neuropsychological function.

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Consensus Paper: Cerebellar Development

2015-10-06

Ketty Leto , Marife Arancillo , Esther B. E. Becker +7 more

The development of the mammalian cerebellum is orchestrated by both cell-autonomous programs and inductive environmental influences. Here, we describe the main processes of cerebellar ontogenesis, highlighting the neurogenic strategies used … The development of the mammalian cerebellum is orchestrated by both cell-autonomous programs and inductive environmental influences. Here, we describe the main processes of cerebellar ontogenesis, highlighting the neurogenic strategies used by developing progenitors, the genetic programs involved in cell fate specification, the progressive changes of structural organization, and some of the better-known abnormalities associated with developmental disorders of the cerebellum.

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Axon overproduction and elimination in the corpus callosum of the developing rhesus monkey

1990-07-01

AS LaMantia , Pasko Rakić

We have studied the cytological and quantitative aspects of axon addition and elimination in the corpus callosum of the developing rhesus monkey. Electron microscopic analysis reveals that during fetal development … We have studied the cytological and quantitative aspects of axon addition and elimination in the corpus callosum of the developing rhesus monkey. Electron microscopic analysis reveals that during fetal development the number of callosal axons increases from 4 million at embryonic day 65 (E65) to 188 million at birth (E 165). Thus, the number of callosal axons in newborn monkeys exceeds the number present in the adult (an average of 56 million; LaMantia and Rakic, 1990a) by at least 3.5 times. Although there is some variability among the 11 fetal and newborn monkeys examined, there appears to be a progressive increase in the total number of callosal axons from midgestation through birth. The presence and numbers of growth cones from E65 through birth suggests that axon addition occurs exclusively during this period. There is no ultrastructural or quantitative indication of postnatal axon addition. After birth, about 70% of the axons in the callosum are eliminated in 2 phases. During the first phase, which includes the first 3 postnatal weeks, approximately 80 million axons are lost at an estimated rate of 4.4 million/d or 50/sec. During the second phase, which continues for the following 3 months, an additional 50 million axons are eliminated at a rate of 0.5 million/d or 5/sec until the adult value is reached. A discontinuous distribution of different classes of axons along the anterior-posterior axis of the tract reminiscent of the pattern seen in the adult is detectable before the onset of the first phase of axon elimination. Since the basic topography and terminal field patterns of callosal projections are well established before birth in all regions of the monkey cortex examined so far (Goldman-Rakic et al., 1983; Killackey and Chalupa, 1986; Dehay et al., 1988; Schwartz and Goldman-Rakic, 1990), we conclude that the massive postnatal elimination of callosal axons described here is unlikely to play a significant role in the development of discretely patterned callosal projection zones or their columnar terminations. The coincidence of axon elimination and the increase in synaptic density throughout the primate cerebral cortex during the first 6 postnatal months (Rakic et al., 1986), however, suggests that supernumerary axons may be lost during a process that results in the local proliferation of synapses from a subset of initial interhemispheric projections.

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Magnetic Resonance Imaging of the Brain and Spine

1988-03-01

Scott W. Atlas

Position Papers1 March 1988Magnetic Resonance Imaging of the Brain and SpineHEALTH AND PUBLIC POLICY COMMITTEE*HEALTH AND PUBLIC POLICY COMMITTEE*Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-108-3-474 SectionsAboutPDF … Position Papers1 March 1988Magnetic Resonance Imaging of the Brain and SpineHEALTH AND PUBLIC POLICY COMMITTEE*HEALTH AND PUBLIC POLICY COMMITTEE*Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-108-3-474 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptMagnetic resonance MR imaging is a new radiologic imaging technology that uses magnetic fields and radio-frequency energy to produce cross-sectional images of a body part of interest [2].Advantages and Disadvantages of ImagingDEMONSTRATED ADVANTAGES1. Magnetic resonance images can be acquired with equal clarity in any orientation: sagittal, coronal, or oblique as well as transaxial [2].2. The range of image contrast for this technique is broader and more continuous than the range for radiographic techniques. Tissue borders are seen more sharply, giving better anatomic definition [2].3. With MR imaging, patients are not exposed to ionizing radiation. This...Reference1. SCHWARTZBALLMOSER JJR. Safety, efficacy, and effectiveness of clinical practices: a new initiative [Editorial]. Ann Intern Med. (1982);96:246-7. LinkGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: *This paper was authored by Daniel L. Kent, M.D., and Eric B. Larson, M.D., M.P.H., and was developed for the Health and Public Policy Committee by the Clinical Efficacy Assessment Subcommittee: Paul F. Griner, M.D., Chairman; Paul Calabresi, M.D.; Lockhart B. McGuire, M.D.; Charles C. Smith, Jr., M.D.; Harold C. Sox, Jr., M.D.; and Earl P. Steinberg, M.D. Members of the Health and Public Policy Committee for the 1987 to 1988 term are Richard G. Farmer, M.D., Chairman; John M. Eisenberg, M.D.; Paul F. Griner, M.D.; Joseph E. Johnson III, M.D.; Michael A. Nevins, M.D.; Donald L. Feinstein, M.D.; Charles E. Lewis, M.D.; Malcolm L. Peterson, M.D.; C. S. Lewis, Jr., M.D.; Steven A. Schroeder, M.D.; Quentin D. Young, M.D. This paper was adopted by the Board of Regents on 26 June 1987. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byMagnetic Resonance Imaging: Diffusion of Technology in an Ambulatory SettingCost effectiveness of magnetic resonance imaging in the neurosciences.The dilemma of health care quality, access, and cost and its effect on MR imagingCompliance with Medical Practice Guidelines: The Case of Home OxygenIntegrating Practice Guidelines with Financial IncentivesThe spinal complications of ankylosing spondylitisMyelopathy of unknown etiology A clinical follow-up and MRI study of 57 casesNeuroimaging Neuro-OphthalmologyMagnetic Resonance Imaging of the Brain and Spine Is Clinical Efficacy Established after the First Decade?DANIEL L. KENT, M.D., ERIC B. LARSON, M.D., M.P.H. 1 March 1988Volume 108, Issue 3Page: 474-476KeywordsBrainDiagnostic imagingForecastingIonizing radiationMagnetic resonance imagingPrevention, policy, and public healthPublic policySafetySpineSub-specialty care ePublished: 1 December 2008 Issue Published: 1 March 1988 PDF downloadLoading ...

MENTAL PHENOMENA EVOKED BY ELECTRICAL STIMULATION OF THE HUMAN HIPPOCAMPAL FORMATION AND AMYGDALA

1978-01-01

Eric Halgren , Richard Walter , D. G. Cherlow +1 more

Journal Article MENTAL PHENOMENA EVOKED BY ELECTRICAL STIMULATION OF THE HUMAN HIPPOCAMPAL FORMATION AND AMYGDALA Get access ERIC HALGREN, ERIC HALGREN Brain Research Institute, Reed Neurological Research Center, and Department … Journal Article MENTAL PHENOMENA EVOKED BY ELECTRICAL STIMULATION OF THE HUMAN HIPPOCAMPAL FORMATION AND AMYGDALA Get access ERIC HALGREN, ERIC HALGREN Brain Research Institute, Reed Neurological Research Center, and Department of Surgeryj Neurological, UCLA School of MedicineLos Angeles, California 90024 Search for other works by this author on: Oxford Academic PubMed Google Scholar RICHARD D. WALTER, RICHARD D. WALTER Brain Research Institute, Reed Neurological Research Center, and Department of Surgeryj Neurological, UCLA School of MedicineLos Angeles, California 90024 Search for other works by this author on: Oxford Academic PubMed Google Scholar DIANA G. CHERLOW, DIANA G. CHERLOW Brain Research Institute, Reed Neurological Research Center, and Department of Surgeryj Neurological, UCLA School of MedicineLos Angeles, California 90024 Search for other works by this author on: Oxford Academic PubMed Google Scholar PAUL H. CRANDALL PAUL H. CRANDALL Brain Research Institute, Reed Neurological Research Center, and Department of Surgeryj Neurological, UCLA School of MedicineLos Angeles, California 90024 Search for other works by this author on: Oxford Academic PubMed Google Scholar Brain, Volume 101, Issue 1, March 1978, Pages 83–115, https://doi.org/10.1093/brain/101.1.83 Published: 01 March 1978

Diagnostic criteria for Walker‐Warburg syndrome

1989-02-01

William B. Dobyns , Roberta A Pagon , Dawna Armstrong +7 more

Abstract Walker‐Warburg syndrome (WWS) is an autosomal recessive disorder manifest by characteristic brain and eye malformations. We reviewed data on 21 of our patients and an additional 42 patients from … Abstract Walker‐Warburg syndrome (WWS) is an autosomal recessive disorder manifest by characteristic brain and eye malformations. We reviewed data on 21 of our patients and an additional 42 patients from the literature. From this review, we expand the phenotype to include congenital muscular dystrophy (CMD) and cleft lip and/or palate (CLP), and revise the diagnostic criteria. Four abnormalities were present in all patients checked for these anomalies: type II lissencephaly (21/21), cerebellar malformation (20/20), retinal malformation (18/18), and CMD (14/14). We propose that these comprise necessary and sufficient diagnostic criteria for WWS. Two other frequently observed abnormalities, ventricular dilatation with or without hydrocephalus (20/21) and anterior chamber malformation (16/21), are helpful but not necessary diagnostic criteria because they were not constant. All other abnormalities occurred less frequently. Congenital macrocephaly with hydrocephalus (11/19) was more common than congenital microcephaly (3/19). Dandy‐Walker malformation (10/19) was sometimes associated with posterior cephalocele (5/21). Additional abnormalities included slit‐like ventricles (1/21), microphthalmia (8/21), ocular colobomas (3/15), congenital cataracts (7/20), genital anomalies in males (5/8), and CLP (4/21). Median survival in our series was 9 months. A related autosomal recessive disorder, Fukuyama congenital muscular dystrophy, consists of similar but less severe brain changes and CMD. It differs from WWS because of consistently less frequent and severe cerebellar and retinal abnormalities. We think that WWS is identical to “cerebro‐oculo‐muscular syndrome” and “muscle, eye, and brain disease”.

Classification system for malformations of cortical development

2001-12-26

A. James Barkovich , Ruben Kuzniecky , Graeme D. Jackson +2 more

The many recent discoveries concerning the molecular biologic bases of malformations of cortical development and the discovery of new such malformations have rendered previous classifications out of date. A revised … The many recent discoveries concerning the molecular biologic bases of malformations of cortical development and the discovery of new such malformations have rendered previous classifications out of date. A revised classification of malformations of cortical development is proposed, based on the stage of development (cell proliferation, neuronal migration, cortical organization) at which cortical development was first affected. The categories have been created based on known developmental steps, known pathologic features, known genetics (when possible), and, when necessary, neuroimaging features. In many cases, the precise developmental and genetic features are uncertain, so classification was made based on known relationships among the genetics, pathologic features, and neuroimaging features. A major change since the prior classification has been the elimination of the separation between diffuse and focal/multifocal malformations, based on the recognition that the processes involved in these processes are not fundamentally different; the difference may merely reflect mosaicism, X inactivation, the influence of modifying genes, or suboptimal imaging. Another change is the listing of fewer specific disorders to reduce the need for revisions; more detail is added in other smaller tables that list specific malformations and malformation syndromes. This classification is useful to the practicing physician in that its framework allows a better conceptual understanding of the disorders, while the component of neuroimaging characteristics allows it to be applied to all patients without necessitating brain biopsy, as in pathology-based classifications.

The morphogenesis and adult pattern of the lobules and fissures of the cerebellum of the white rat

1952-10-01

O. Larsell

A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome

1998-01-01

Vincent des Portes , Jean Marc Pinard , Pierre Billuart +7 more

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Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes

2014-01-28

Timothy J. Edwards , Elliott H. Sherr , A. James Barkovich +1 more

The corpus callosum is the largest fibre tract in the brain, connecting the two cerebral hemispheres, and thereby facilitating the integration of motor and sensory information from the two sides … The corpus callosum is the largest fibre tract in the brain, connecting the two cerebral hemispheres, and thereby facilitating the integration of motor and sensory information from the two sides of the body as well as influencing higher cognition associated with executive function, social interaction and language. Agenesis of the corpus callosum is a common brain malformation that can occur either in isolation or in association with congenital syndromes. Understanding the causes of this condition will help improve our knowledge of the critical brain developmental mechanisms required for wiring the brain and provide potential avenues for therapies for callosal agenesis or related neurodevelopmental disorders. Improved genetic studies combined with mouse models and neuroimaging have rapidly expanded the diverse collection of copy number variations and single gene mutations associated with callosal agenesis. At the same time, advances in our understanding of the developmental mechanisms involved in corpus callosum formation have provided insights into the possible causes of these disorders. This review provides the first comprehensive classification of the clinical and genetic features of syndromes associated with callosal agenesis, and provides a genetic and developmental framework for the interpretation of future research that will guide the next advances in the field.

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Lake-Front Property: A Unique Germinal Niche by the Lateral Ventricles of the Adult Brain

2011-05-01

Rebecca A. Ihrie , Arturo Álvarez-Buylla

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Axonal guidance during development of the great cerebral commissures: Descriptive and experimental studies, in vivo, on the role of preformed glial pathways

1982-09-01

Jerry Silver , Suzanne Lorenz , Douglas Wahłsten +1 more

Abstract Do structres exist within the embryonic central nervous system that guide axons across the midline during development of the great cerebral commissures (corpus callosum, anterior commissure)? With the use … Abstract Do structres exist within the embryonic central nervous system that guide axons across the midline during development of the great cerebral commissures (corpus callosum, anterior commissure)? With the use of serial section and reconstructive computer graphic techniques we have found that during normal ontogeny of the mouse forebrain and before the arrival of the pioneer fibers of the corpus callosum at the midline, a population of primitive glial cells migrates medially (through the fused walls of the dorsal septum) from the ependymal zones of each hemisphere. At the midline, and well rostral to the lamina terminalis, these cells unite to form a bridgelike structure of “sling” suspended below the longitudinal cerebral fissure. The first callosal axons grow along the surface of this cellular bridge as they travel toward the contralateral side of the brain. The “sling” disappears neonatally. The fibers of the anterior commissure grow within the lamina terminalis along a different type of preformed glial structure. Movement of these axons occurs through an aligned system of glial processes separated by wide extracellular spaces. Do these transient glial tissues actually provide guidance cues to the commissural axons? Analyses of three situations in which the glial “sling” is genetically or surgically impaired or nonexistent indicate that this structure does, indeed, play an essential role in the development of the corpus callosum. We have analyzed (1) the embryonic stages of a congenitally acallosal mouse mutant (strain BALB/cCF), (2) several pouch stages of a primitive acallosal marsupial, Didelphys virginiana (opossum), and (3) animals in which the “sling” had been lesioned surgically through the uterine wall in the normal embryo (strain C57BL/6J). In the acallosal mouse mutant fusion of the septal midline is delayed by about 72 hours and the “sling” does not form. Although the would‐be callosal axons approach the midline on schedule, they do not cross. Instead, the callosal fibers whirl into a pair of large neuromas adjacent to the longitudinal fissure. Similarly, in the opossum, fusion of the medial septal walls and formation of the glial “sling” are also lacking. However, in this species, instead of traveling dorsally, the “callosal” axons turn ventrally and pass contralaterally by way of the anterior commissure pathway. Surgical disunion of the glial “sling” also resulted in acallosal individuals. The callosal pathology in these affected animals mimicked exactly that of the genetically lesioned mutant. Our observations suggest that many different types of oriented glial tissues exist within the embryonic neural anlage. We propose that such tissues have the ability to influence the directionality of axonal movements and, thereby, play a crucial role in establishing orderly fiber projections within the developing central nervous system.

ABNORMAL NEURONAL MIGRATION, DERANGED CEREBRAL CORTICAL ORGANIZATION, AND DIFFUSE WHITE MATTER ASTROCYTOSIS OF HUMAN FETAL BRAIN

1978-11-01

Ben H. Choi , Lowell W. Lapham , Laman Amin‐Zaki +1 more

Detailed clinical and neuropathological studies have been made in two fullterm newborn human infants who were exposed to methylmercury in utero as a result of maternal ingestion of methylmercury-contaminated bread … Detailed clinical and neuropathological studies have been made in two fullterm newborn human infants who were exposed to methylmercury in utero as a result of maternal ingestion of methylmercury-contaminated bread in early phases of pregnancy. High levels of mercury were detected in various regions of the brain at autopsy. Study of the brains revealed a disturbance in the development in both cases, consisting essentially of an incomplete or abnormal migration of neurons to the cerebellar and cerebral cortices, and deranged cortical organization of the cerebrum. There were numerous heterotopic neurons, both isolated and in groups, in the white matter of cerebrum and cerebellum and the laminar cortical pattern of the laminar cortical pattern of the cerebrum was disturbed in many regions as was shown by the irregular groupings and the deranged alignment of cortical. Prominent in the white matter of the cerebrum and the cerebellum was diffuse gemistocytic astrocytosis accompanied by an accumulation of mercury grains in their cytoplasm. These findings indicate a high degree of vulnerability of human fetal brain to maternal intoxication by methylmercury. A major effect appears to be related to faulty development and not to destructive focal neuronal damage as has been observed in mercury intoxicaiton in adults and children exposed postnatally.

Reduced Size of Corpus Callosum in Autism

1995-08-01

Brian Egaas , Eric Courchesne , Osamu Saitoh

To determine via magnetic resonance imaging if the posterior corpus callosum is reduced in the midline cross-sectional area in autistic patients, consistent with previous reports of parietal lobe abnormalities.Case-control study.Tertiary … To determine via magnetic resonance imaging if the posterior corpus callosum is reduced in the midline cross-sectional area in autistic patients, consistent with previous reports of parietal lobe abnormalities.Case-control study.Tertiary care facility.Fifty-one autistic patients (45 males and six females; age range, 3 to 42 years), including both mentally retarded and nonretarded patients who met several diagnostic criteria for autism were prospectively selected. Fifty-one age-and sex-matched volunteer normal control subjects were also included.None.Computer-aided measurement of cross-sectional area, areas of five subregions, and thickness profile.Overall size reduction, concentrated in posterior subregions.Evidence is found of a reduced size of the corpus callosum in autistic patients. This reduction is localized to posterior regions, where parietal lobe fibers are known to project. This finding further supports the idea that parietal lobe involvement may be a consistent feature in autism.

Reconstruction of fetal brain MRI with intensity matching and complete outlier removal

2012-08-09

Maria Kuklisova‐Murgasova , Gerardine Quaghebeur , Mary Rutherford +2 more

We propose a method for the reconstruction of volumetric fetal MRI from 2D slices, comprising super-resolution reconstruction of the volume interleaved with slice-to-volume registration to correct for the motion. The … We propose a method for the reconstruction of volumetric fetal MRI from 2D slices, comprising super-resolution reconstruction of the volume interleaved with slice-to-volume registration to correct for the motion. The method incorporates novel intensity matching of acquired 2D slices and robust statistics which completely excludes identified misregistered or corrupted voxels and slices. The reconstruction method is applied to motion-corrupted data simulated from MRI of a preterm neonate, as well as 10 clinically acquired thick-slice fetal MRI scans and three scan-sequence optimized thin-slice fetal datasets. The proposed method produced high quality reconstruction results from all the datasets to which it was applied. Quantitative analysis performed on simulated and clinical data shows that both intensity matching and robust statistics result in statistically significant improvement of super-resolution reconstruction. The proposed novel EM-based robust statistics also improves the reconstruction when compared to previously proposed Huber robust statistics. The best results are obtained when thin-slice data and the correct approximation of the point spread function is used. This paper addresses the need for a comprehensive reconstruction algorithm of 3D fetal MRI, so far lacking in the scientific literature.

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Sex Differences in the Human Corpus Callosum: Myth or Reality?

1997-01-01

Katherine M. Bishop , Douglas Wahłsten

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The neurocristopathiesA unifying concept of disease arising in neural crest maldevelopment

1974-07-01

Robert P. Bolande

AN ENCEPHALOGRAPHIC RATIO FOR ESTIMATING VENTRICULAR ENLARGEMENT AND CEREBRAL ATROPHY

1942-06-01

William A. Evans

The most frequent encephalographic abnormality in children, and perhaps also in adults, is enlargement of the lateral ventricles. My associates and I have felt the need of a quantitative expression … The most frequent encephalographic abnormality in children, and perhaps also in adults, is enlargement of the lateral ventricles. My associates and I have felt the need of a quantitative expression to describe more accurately the degree of enlargement and to define with some precision, if possible, the normal limits of ventricular size. It is assumed, in spite of a few scattered observations reported in the literature to the contrary, that the cerebral ventricles are of a relatively fixed size and shape and, in the absence of disease, do not vary significantly from day to day. Further systematic study is desirable to establish this point. The simplest measurement to make, and at the same time one of the most significant, is the transverse diameter of the anterior horns on a film exposed in the anteroposterior projection with the posterior part of the skull down. This allows filling of the anterior horns

Spatio‐temporal image correlation (STIC): new technology for evaluation of the fetal heart

2003-09-04

Greggory R. DeVore , P. Falkensammer , Mark Sklansky +1 more

Spatio-temporal image correlation (STIC) is a new approach for clinical assessment of the fetal heart. It offers an easy to use technique to acquire data from the fetal heart and … Spatio-temporal image correlation (STIC) is a new approach for clinical assessment of the fetal heart. It offers an easy to use technique to acquire data from the fetal heart and to aid in visualization with both two-dimensional and three-dimensional (3D) cine sequences. The acquisition is performed in two steps: first, images are acquired by a single, automatic volume sweep. Second, the system analyzes the image data according to their spatial and temporal domain and processes an online dynamic 3D image sequence that is displayed in a multiplanar reformatted cross-sectional display and/or a surface rendered display. The examiner can navigate within the heart, re-slice, and produce all of the standard image planes necessary for a comprehensive diagnosis. The advantages of STIC for use in evaluation of the fetal heart are as follows: the technique delivers a temporal resolution which corresponds to a B-mode frame rate of approximately 80 frames/s; it provides the examiner with an unlimited number of images for review; it allows for correlation between image planes that are perpendicular to the main image acquisition plane; it may shorten the evaluation time when complex heart defects are suspected; it enables the reconstruction of a 3D rendered image that contains depth and volume which may provide additional information that is not available from the thin multiplanar image slices (e.g. for pulmonary veins, septal thickness); it lends itself to storage and review of volume data by the examiner or by experts at a remote site; it provides the examiner with the ability to review all images in a looped cine sequence.

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A review of the current use of magnetic resonance imaging in pregnancy and safety implications for the fetus

2004-11-03

J. P. De Wilde , A. Rivers , David L. Price

Mutations in filamin 1 Prevent Migration of Cerebral Cortical Neurons in Human Periventricular Heterotopia

1998-12-01

Jeremy W. Fox , Edward D. Lamperti , Yaman Z. Ekşioğlu +7 more

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Exclusion of fetal ventriculomegaly with a single measurement: the width of the lateral ventricular atrium.

1988-12-01

J D Cardoza , Ruth B. Goldstein , Roy A. Filly

The ventricular atria in 100 healthy fetuses with gestational ages ranging from 14 to 38 menstrual weeks were evaluated and compared with those of 38 fetuses in whom ventriculomegaly had … The ventricular atria in 100 healthy fetuses with gestational ages ranging from 14 to 38 menstrual weeks were evaluated and compared with those of 38 fetuses in whom ventriculomegaly had been diagnosed in utero. Axial sonograms of the brain through the atrium of the lateral ventricle demonstrated that the normal atrial diameter remained relatively constant throughout the gestational age range observed. The atrium had a mean diameter of 7.6 +/- 0.6 mm (standard deviation [SD]). Measurement of this structure can be quickly performed, is reproducible with low intra- and interobserver variation, and permits ventriculomegaly to be excluded. Atrial diameters exceeding 10 mm (above 4 SDs) suggest ventriculomegaly, with a low false-positive rate.

Standard Plane Localization in Fetal Ultrasound via Domain Transferred Deep Neural Networks

2015-04-21

Hao Chen , Dong Ni , Jing Qin +4 more

Automatic localization of the standard plane containing complicated anatomical structures in ultrasound (US) videos remains a challenging problem. In this paper, we present a learning-based approach to locate the fetal … Automatic localization of the standard plane containing complicated anatomical structures in ultrasound (US) videos remains a challenging problem. In this paper, we present a learning-based approach to locate the fetal abdominal standard plane (FASP) in US videos by constructing a domain transferred deep convolutional neural network (CNN). Compared with previous works based on low-level features, our approach is able to represent the complicated appearance of the FASP and hence achieve better classification performance. More importantly, in order to reduce the overfitting problem caused by the small amount of training samples, we propose a transfer learning strategy, which transfers the knowledge in the low layers of a base CNN trained from a large database of natural images to our task-specific CNN. Extensive experiments demonstrate that our approach outperforms the state-of-the-art method for the FASP localization as well as the CNN only trained on the limited US training samples. The proposed approach can be easily extended to other similar medical image computing problems, which often suffer from the insufficient training samples when exploiting the deep CNN to represent high-level features.

The diagnosis of fetal microcephaly

1984-07-01

Frank A. Chervenak , Philippe Jeanty , F. Cantraine +4 more

Glutamic acid: Selective depletion by viral induced granule cell loss in hamster cerebellum

1974-06-01

Anne B. Young , Mary Lou Oster‐Granite , Robert M. Herndon +1 more

Development of the human corpus callosum during childhood and adolescence: A longitudinal MRI study

1999-05-01

Jay N. Gbedd , Jonathan D. Blumenthal , Neal Jeffries +7 more

AKINETIC MUTISM WITH AN EPIDERMOID CYST OF THE 3RD VENTRICLE

1941-01-01

Hugh Cairns , R. C. OLDFIELD , Joe Pennybacker +1 more

Journal Article AKINETIC MUTISM WITH AN EPIDERMOID CYST OF THE 3RD VENTRICLE Get access H. CAIRNS, H. CAIRNS Nuffield Department of SurgeryOxford Search for other works by this author on: … Journal Article AKINETIC MUTISM WITH AN EPIDERMOID CYST OF THE 3RD VENTRICLE Get access H. CAIRNS, H. CAIRNS Nuffield Department of SurgeryOxford Search for other works by this author on: Oxford Academic PubMed Google Scholar R. C. OLDFIELD, R. C. OLDFIELD Nuffield Department of SurgeryOxford Search for other works by this author on: Oxford Academic PubMed Google Scholar J. B. PENNYBACKER, J. B. PENNYBACKER Nuffield Department of SurgeryOxford Search for other works by this author on: Oxford Academic PubMed Google Scholar D. WHITTERIDGE D. WHITTERIDGE Nuffield Department of SurgeryOxford Search for other works by this author on: Oxford Academic PubMed Google Scholar Brain, Volume 64, Issue 4, December 1941, Pages 273–290, https://doi.org/10.1093/brain/64.4.273 Published: 01 December 1941

FRIEDREICH'S ATAXIA: A CLINICAL AND GENETIC STUDY OF 90 FAMILIES WITH AN ANALYSIS OF EARLY DIAGNOSTIC CRITERIA AND INTRAFAMILIAL CLUSTERING OF CLINICAL FEATURES

1981-01-01

A E Harding

Journal Article FRIEDREICH'S ATAXIA: A CLINICAL AND GENETIC STUDY OF 90 FAMILIES WITH AN ANALYSIS OF EARLY DIAGNOSTIC CRITERIA AND INTRAFAMILIAL CLUSTERING OF CLINICAL FEATURES Get access A. E. HARDING … Journal Article FRIEDREICH'S ATAXIA: A CLINICAL AND GENETIC STUDY OF 90 FAMILIES WITH AN ANALYSIS OF EARLY DIAGNOSTIC CRITERIA AND INTRAFAMILIAL CLUSTERING OF CLINICAL FEATURES Get access A. E. HARDING A. E. HARDING 1 From the MRC Clinical Genetics Unit, Institute of Child HealthLondon 1Present address: Department of Neurology, The Middlesex Hospital, Mortimer Street, London W1. Search for other works by this author on: Oxford Academic PubMed Google Scholar Brain, Volume 104, Issue 3, September 1981, Pages 589–620, https://doi.org/10.1093/brain/104.3.589 Published: 01 September 1981 Article history Received: 03 March 1981 Published: 01 September 1981

Size, distribution, and number of fibres in the human Corpus Callosum

1954-05-01

J. Tomasch

Malformations of cortical development: clinical features and genetic causes

2014-06-02

Renzo Guerrini , William B. Dobyns

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Analysis and Classification of Cerebellar Malformations

2002-08-01

Sandeep Patel , A. James Barkovich

BACKGROUND AND PURPOSE: Because of improved visualization of posterior fossa structures with MR imaging, cerebellar malformations are recognized with increasing frequency. Herein we attempt to describe and propose a rational … BACKGROUND AND PURPOSE: Because of improved visualization of posterior fossa structures with MR imaging, cerebellar malformations are recognized with increasing frequency. Herein we attempt to describe and propose a rational classification of cerebellar malformations. METHODS: MR images obtained in 70 patients with cerebellar malformations were retrospectively reviewed. The cerebellar malformations were initially divided into those with hypoplasia and those with dysplasia. They were then divided into focal and diffuse malformations. Finally, they were separated according to other features, such as brain stem involvement and cerebral involvement. RESULTS: All patients with diffuse cerebellar dysplasia (muscular dystrophy [n = 10], cytomegalovirus [n = 6], lissencephaly [n = 3],) had abnormalities of the cerebrum. Patients with focal cerebellar dysplasia of the Joubert (n = 12) and rhombencephalosynapsis (n = 8) types had variable cerebral dysplasia. Patients with nonsyndromic focal cerebellar dysplasia (isolated focal cerebellar cortical dysplasia [n = 2], cerebellar heterotopia with cerebellar cortical dysplasia [n = 1], idiopathic diffuse cerebellar dysplasia [n = 1], Lhermitte-Duclos syndrome [n = 1]) and those with cerebellar hypoplasia (isolated cerebellar hypoplasia [n = 6], pontocerebellar hypoplasia type 1 [n = 1]) had normal cerebra. Patients with features of Dandy-Walker malformation (n = 19) had both hypoplasia and dysplasia of the cerebellum. No notable difference was found between the cerebella of patients with large fourth ventricle cysts (Dandy-Walker malformations) and those without large fourth ventricle cysts (isolated cerebellar hypoplasia). Therefore, the Dandy-Walker malformation seems to be heterogeneous. CONCLUSION: Use of this classification system helps in the segregation and understanding of the relationship among cerebellar malformations. Although it will undoubtedly require revisions, this classification is a first step in combining imaging with molecular biology to facilitate understanding of cerebellar development and maldevelopment.

A developmental and genetic classification for malformations of cortical development

2005-12-27

A. James Barkovich , Ruben Kuzniecky , Graeme D. Jackson +2 more

Increasing recognition of malformations of cortical development and continuing improvements in imaging techniques, molecular biologic techniques, and knowledge of mechanisms of brain development have resulted in continual improvement of the … Increasing recognition of malformations of cortical development and continuing improvements in imaging techniques, molecular biologic techniques, and knowledge of mechanisms of brain development have resulted in continual improvement of the understanding of these disorders. The authors propose a revised classification based on the stage of development (cell proliferation, neuronal migration, cortical organization) at which cortical development was first affected. The categories are based on known developmental steps, known pathologic features, known genetics (when possible), and, when necessary, neuroimaging features. In those cases in which the precise developmental and genetic features are uncertain, classification is based on known relationships among the genetics, pathologic features, and neuroimaging features. The major change since the prior classification has been a shift to using genotype, rather than phenotype, as the basis for classifying disorders wherever the genotype-phenotype relationship is adequately understood. Other substantial changes include more detailed classification of congenital microcephalies, particularly those in which the genes have been mapped or identified, and revised classification of congenital muscular dystrophies and polymicrogyrias. Information on genetic testing is also included. This classification allows a better conceptual understanding of the disorders, and the use of neuroimaging characteristics allows it to be applied to all patients without necessitating brain biopsy, as in pathology-based classifications.

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AGENESIS OF THE CORPUS CALLOSUM

1968-01-01

JOHN D. LOSSER , Ellsworth C. Alvord

Journal Article AGENESIS OF THE CORPUS CALLOSUM Get access JOHN D. LOSSER, JOHN D. LOSSER Department of Neurological Surgery and Laboratory of Neuropathology University of Washington Medical SchoolSeattle, Wash., 98105 … Journal Article AGENESIS OF THE CORPUS CALLOSUM Get access JOHN D. LOSSER, JOHN D. LOSSER Department of Neurological Surgery and Laboratory of Neuropathology University of Washington Medical SchoolSeattle, Wash., 98105 Search for other works by this author on: Oxford Academic PubMed Google Scholar ELLSWORTH C ALVORD, JR. ELLSWORTH C ALVORD, JR. Department of Neurological Surgery and Laboratory of Neuropathology University of Washington Medical SchoolSeattle, Wash., 98105 Search for other works by this author on: Oxford Academic PubMed Google Scholar Brain, Volume 91, Issue 3, September 1968, Pages 553–570, https://doi.org/10.1093/brain/91.3.553 Published: 01 September 1968

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Somatic Mutations in Cerebral Cortical Malformations

2014-08-20

Saumya Shekhar Jamuar , Anh-Thu N. Lam , Martin Kircher +7 more

Although there is increasing recognition of the role of somatic mutations in genetic disorders, the prevalence of somatic mutations in neurodevelopmental disease and the optimal techniques to detect somatic mosaicism … Although there is increasing recognition of the role of somatic mutations in genetic disorders, the prevalence of somatic mutations in neurodevelopmental disease and the optimal techniques to detect somatic mosaicism have not been systematically evaluated.Using a customized panel of known and candidate genes associated with brain malformations, we applied targeted high-coverage sequencing (depth, ≥200×) to leukocyte-derived DNA samples from 158 persons with brain malformations, including the double-cortex syndrome (subcortical band heterotopia, 30 persons), polymicrogyria with megalencephaly (20), periventricular nodular heterotopia (61), and pachygyria (47). We validated candidate mutations with the use of Sanger sequencing and, for variants present at unequal read depths, subcloning followed by colony sequencing.Validated, causal mutations were found in 27 persons (17%; range, 10 to 30% for each phenotype). Mutations were somatic in 8 of the 27 (30%), predominantly in persons with the double-cortex syndrome (in whom we found mutations in DCX and LIS1), persons with periventricular nodular heterotopia (FLNA), and persons with pachygyria (TUBB2B). Of the somatic mutations we detected, 5 (63%) were undetectable with the use of traditional Sanger sequencing but were validated through subcloning and subsequent sequencing of the subcloned DNA. We found potentially causal mutations in the candidate genes DYNC1H1, KIF5C, and other kinesin genes in persons with pachygyria.Targeted sequencing was found to be useful for detecting somatic mutations in patients with brain malformations. High-coverage sequencing panels provide an important complement to whole-exome and whole-genome sequencing in the evaluation of somatic mutations in neuropsychiatric disease. (Funded by the National Institute of Neurological Disorders and Stroke and others.).

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CROSSED CEREBELLAR DIASCHISIS

1986-01-01

Patrizià Pantano , Jean‐Claude Baron , Yves Samson +3 more

SUMMARY To investigate further the topographical, clinical and temporal correlates of crossed cerebellar diaschisis (CCD) after supratentorial stroke, 55 patients suffering from a single unilateral ischaemic stroke in the carotid … SUMMARY To investigate further the topographical, clinical and temporal correlates of crossed cerebellar diaschisis (CCD) after supratentorial stroke, 55 patients suffering from a single unilateral ischaemic stroke in the carotid artery territory were studied with the quantitative oxygen-15 steady-state technique and positron tomography. Fourteen patients had one or more follow-up studies, contributing a total of 72 studies. The phenomenon of CCD, defined by depressed oxygen consumption in the contralateral cerebellum, was statistically significant in 58% of the studies It was more prominent when the supratentorial infarct involved the internal capsule or the cortical mantle extensively, consistent with the hypothesis that it results from destruction of the corticopontocerebellar fibres. Although CCD was associated with the presence of hemiparesis, it also occurred in patients without hemiparesis and was not seen in all those with hemiparesis, suggesting that destruction of the pyramidal tract is neither necessary nor sufficient to induce CCD Finally, CCD tended to persist over long periods of time after a stroke, pointing towards a transneuronal degeneration possibly akin to crossed cerebellar atrophy as a likely explanation for CCD Nevertheless, CCD could be seen within hours of a stroke and sometimes disappeared within a few days, suggesting a temporal continuum between early, potentially reversible functional hypometabolism (diaschisis) and irreversible degeneration.

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations

2006-05-10

Elena Parrini , Anna Ramazzotti , William B. Dobyns +7 more

Periventricular heterotopia (PH) occurs when collections of neurons lay along the lateral ventricles or just beneath. Human Filamin A gene (FLNA) mutations are associated with classical X-linked bilateral periventricular nodular … Periventricular heterotopia (PH) occurs when collections of neurons lay along the lateral ventricles or just beneath. Human Filamin A gene (FLNA) mutations are associated with classical X-linked bilateral periventricular nodular heterotopia (PNH), featuring contiguous heterotopic nodules, mega cisterna magna, cardiovascular malformations and epilepsy. FLNA encodes an F-actin-binding cytoplasmic phosphoprotein and is involved in early brain neurogenesis and neuronal migration. A rare, recessive form of bilateral PNH with microcephaly and severe delay is associated with mutations of the ADP-ribosylation factor guanine nucleotide-exchange factor-2 (ARFGEF2) gene, required for vesicle and membrane trafficking from the trans-Golgi. However, PH is a heterogeneous disorder. We studied clinical and brain MRI of 182 patients with PH and, based on its anatomic distribution and associated birth defects, identified 15 subtypes. Classical bilateral PNH represented the largest group (98 patients: 54%). The 14 additional phenotypes (84 patients: 46%) included PNH with Ehlers-Danlos syndrome (EDS), temporo-occipital PNH with hippocampal malformation and cerebellar hypoplasia, PNH with fronto-perisylvian or temporo-occipital polymicrogyria, posterior PNH with hydrocephalus, PNH with microcephaly, PNH with frontonasal dysplasia, PNH with limb abnormalities, PNH with fragile-X syndrome, PNH with ambiguous genitalia, micronodular PH, unilateral PNH, laminar ribbon-like and linear PH. We performed mutation analysis of FLNA in 120 patients, of whom 72 (60%) had classical bilateral PNH and 48 (40%) other PH phenotypes, and identified 25 mutations in 40 individuals. Sixteen mutations had not been reported previously. Mutations were found in 35 patients with classical bilateral PNH, in three with PNH with EDS and in two with unilateral PNH. Twenty one mutations were nonsense and frame-shift and four missense. The high prevalence of mutations causing protein truncations confirms that loss of function is the major cause of the disorder. FLNA mutations were found in 100% of familial cases with X-linked PNH (10 families: 8 with classical bilateral PNH, 1 with EDS and 1 with unilateral PH) and in 26% of sporadic patients with classical bilateral PNH. Overall, mutations occurred in 49% of individuals with classical bilateral PNH irrespective of their being familial or sporadic. However, the chances of finding a mutation were exceedingly gender biased with 93% of mutations occurring in females and 7% in males. The probability of finding FLNA mutations in other phenotypes was 4% but was limited to the minor variants of PNH with EDS and unilateral PNH. Statistical analysis considering all 42 mutations described so far identifies a hotspot region for PNH in the actin-binding domain (P < 0.05).

Familial agenesis of the cerebellar vermis

1969-09-01

M Joubert , Jean-Jacques Eisenring , Jennifer Preston +1 more

month-old French Canadian boy, was admitted to the Montreal ChiIdren's Hospital on Oct. 9, 1967, for evaluation of abnormal breathing and developmental retardation.He was the last of six children in … month-old French Canadian boy, was admitted to the Montreal ChiIdren's Hospital on Oct. 9, 1967, for evaluation of abnormal breathing and developmental retardation.He was the last of six children in his sibship, born after regnancy.Forceps were used during a delivery.nomdTrl ere was no history of trauma or anoxia at birth; however, his breathing, even at birth, was abnormally rapid.He smiled early.

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Focal cortical dysplasia: neuropathological subtypes, EEG, neuroimaging and surgical outcome

2002-07-28

Laura Tassi

Since the original description by Taylor, the term focal cortical dysplasia has been used to refer to a wide range of alterations of the cortical mantle. More recently, these conditions … Since the original description by Taylor, the term focal cortical dysplasia has been used to refer to a wide range of alterations of the cortical mantle. More recently, these conditions have been described from neuroimaging, neuropathological and genetic standpoints, generating several classifications. It is widely recognized that these classifications are unsatisfactory. We propose a simplified classification of focal cortical dysplasias based on easily recognized neuropathological characteristics. We retrospectively re-examined histological sections of cortex from 52 of 224 (23%) patients operated on for drug-resistant partial epilepsy in which cortical dysplasia was present but not associated with other brain pathologies except hippocampal sclerosis. Three subgroups were identified: (i) architectural dysplasia (31 patients) characterized by abnormal cortical lamination and ectopic neurones in white matter; (ii) cytoarchitectural dysplasia (six patients) characterized by giant neurofilament-enriched neurones in addition to altered cortical lamination; and (iii) Taylor-type cortical dysplasia (15 patients) with giant dysmorphic neurones and balloon cells (all but two patients) associated with cortical laminar disruption. The patients with architectural dysplasia had lower seizure frequency than those with cytoarchitectural and Taylor-type dysplasia, and the epileptogenic zone was mainly in the temporal lobe. In patients with Taylor-type dysplasia, the epileptogenic zone was mainly extratemporal, and interictal stereo-EEG was distinctive. MRI was unrevealing in 34% of patients, but distinctive signal alterations characterized most patients with Taylor-type dysplasia, while focal hypoplasia with MRI abnormalities was found in architectural dysplasia. Patients with Taylor-type dysplasia had the best outcome, with 75% seizure-free (Engel class Ia) after at least a year of follow-up compared with 50% of cytoarchitectural dysplasia and 43% of architectural dysplasia patients seizure-free. This three-category classification is based on easily recognized histopathological characteristics and avoids complicated terminology, while the distinctive ensemble of other characteristics defines clinically homogeneous groups.

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Robust Super-Resolution Volume Reconstruction From Slice Acquisitions: Application to Fetal Brain MRI

2010-06-14

Ali Gholipour , J A Estroff , Simon K. Warfield

Fast magnetic resonance imaging slice acquisition techniques such as single shot fast spin echo are routinely used in the presence of uncontrollable motion. These techniques are widely used for fetal … Fast magnetic resonance imaging slice acquisition techniques such as single shot fast spin echo are routinely used in the presence of uncontrollable motion. These techniques are widely used for fetal magnetic resonance imaging (MRI) and MRI of moving subjects and organs. Although high-quality slices are frequently acquired by these techniques, inter-slice motion leads to severe motion artifacts that are apparent in out-of-plane views. Slice sequential acquisitions do not enable 3-D volume representation. In this study, we have developed a novel technique based on a slice acquisition model, which enables the reconstruction of a volumetric image from multiple-scan slice acquisitions. The super-resolution volume reconstruction is formulated as an inverse problem of finding the underlying structure generating the acquired slices. We have developed a robust M-estimation solution which minimizes a robust error norm function between the model-generated slices and the acquired slices. The accuracy and robustness of this novel technique has been quantitatively assessed through simulations with digital brain phantom images as well as high-resolution newborn images. We also report here successful application of our new technique for the reconstruction of volumetric fetal brain MRI from clinically acquired data.

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Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity

2007-02-20

Lynn K. Paul , Warren S. Brown , Ralph Adolphs +4 more

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Development of the corpus callosum and cavum septi in man

1968-01-01

Pasko Rakić , Paul I. Yakovlev

Abstract The development of the cerebral commissures, septal area, primordium hippocampi, septum pellucidum and cavum septi was followed from early embryonal stages to term. The growth of the corpus callosum … Abstract The development of the cerebral commissures, septal area, primordium hippocampi, septum pellucidum and cavum septi was followed from early embryonal stages to term. The growth of the corpus callosum was measured from the fourth fetal month to maturity. It was concluded that the development of the corpus callosum is preceded by the infolding of the dorsal part of the lamina reuniens of His (1904) in the region of the prospective hippocampus into a median groove, and by fusion of its banks into a massa commissuralis which becomes the bed for corpus callosum, as was described by Zuckerkandl (1901) in mice. The cavum septi arises as a pocket between the walls of the infolded primordium hippocampi and bridged by the corpus callosum. The pocket is open at first into the interhemispheric fissure and remains open in the adult rodents, carnivora and monkeys (Rhesus). The pocket is sealed by the rostrum of corpus callosum in cetacea (Tursiops), apes and in man. Interstitial cavitation in the commissural plate as postulated by Hochstetter (1929) has not been observed.

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations

2000-09-01

Susan E. Hong , Yin Yao Shugart , David T. Huang +5 more

Disorders of cognitive and affective development in cerebellar malformations

2007-09-14

Alessandro Tavano , Roberto Grasso , Chiara Gagliardi +4 more

Acquired cerebellar lesions in adults and children can lead to the development of a complex behavioural pattern termed 'Cerebellar Cognitive Affective Syndrome' (Schmahmann and Sherman, Brain, 1998; 121: 561-79), which … Acquired cerebellar lesions in adults and children can lead to the development of a complex behavioural pattern termed 'Cerebellar Cognitive Affective Syndrome' (Schmahmann and Sherman, Brain, 1998; 121: 561-79), which is characterized by reduced cognitive efficiency associated with specific neuropsychological deficits (executive and visuospatial disorders), expressive language disorders (mild agrammatism and anomia) and affective disorders with blunting of affect. It is not known whether a symptomatological picture such as this can also be found in congenital cerebellar malformations. We studied the behavioural developmental profile of 27 patients including children and adults with congenital malformations confined to the cerebellum, the largest studied sample to date. Extensive clinical and neuropsychological investigations highlight the presence of a wide range of disorders supporting the important role played by the cerebellum in the acquisition of higher-order cognitive and affective skills. The type and extent of cerebral reorganization processes in the presence of malformative lesions are difficult to predict and may possibly account for the variability of clinical phenotypes. It is, therefore, more difficult to identify a syndromic picture defined as exactly as is the case with acquired lesions. However, the pattern of deficits that we document is in remarkable agreement with the general profile of the Cerebellar Cognitive Affective Syndrome. Malformations affecting the cerebellar vermis induce affective and social disorders and evolve towards more unfavourable pictures often associated with an autistic symptomatology. Malformations of cerebellar hemispheres are more frequently associated with selective neuropsychological deficits involving mainly executive functions and visuospatial and linguistic abilities. Motor deficits are generally less severe, and tend to improve slowly and progressively, in some cases reaching almost complete functionality. Finally, the overall favourable evolution with an onset of skills in advanced age in a consistent subset of subjects suggests that individual follow-ups should be performed in order to monitor the quality and stability of impairments and acquired abilities over time.

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<scp>ISUOG</scp> Interim Guidance on ultrasound for Zika virus infection in pregnancy: information for healthcare professionals

2016-03-10

Aris T. Papageorghiou , B. Thilaganathan , C. M. Bilardo +6 more

In response to the World Health Organization (WHO) statements and international concerns regarding the Zika virus (ZIKV) outbreak, ISUOG is publishing the following guidance for ultrasound during pregnancy. With the … In response to the World Health Organization (WHO) statements and international concerns regarding the Zika virus (ZIKV) outbreak, ISUOG is publishing the following guidance for ultrasound during pregnancy. With the current uncertainty regarding many aspects of the diagnosis and clinical course of ZIKV infection in pregnancy, potentially valuable information may be obtained by ultrasound practitioners that may help in counseling pregnant women and further improve our understanding of the pathophysiology of ZIKV infection in pregnancy. There is an outbreak of ZIKV infection in the Americas, Caribbean and South Pacific1, 2. The infection is spread mainly by Aedes mosquitoes, although a small number of cases from sexual transmission have been reported3. The wide distribution of the mosquito, combined with the lack of immunity in the population, has led to rapid evolution of the outbreak. Most cases of ZIKV infection are self-limiting and without sequelae, but there have been cases of Guillain–Barré disease post-infection. In addition, clusters of cases of brain anomalies and microcephaly in some areas with known ZIKV transmission have been reported. This increased number of children with microcephaly has led to a high level of concern among pregnant women living in or traveling to endemic areas. ZIKV can cross the placenta and has been detected using polymerase chain reaction (PCR) analysis of amniotic fluid of pregnancies affected with fetal structural brain abnormalities and microcephaly4, and ZIKV has been isolated postmortem from the brain of a fetus with microcephaly5. A causal relationship between in-utero exposure to ZIKV and microcephaly is now likely, though not yet fully established6. It should be remembered that, for fetal abnormalities to occur due to congenital infection, a number of steps are needed: maternal exposure; maternal infection; fetal infection; and fetal affection. How these steps progress in ZIKV infection is unknown: we do not know how many women exposed in pregnancy become infected, how many of those infected will transmit to the fetus, and what proportion of infected fetuses will suffer effects. It is also important to note that, although microcephaly has been observed, this may well represent the severe end of the spectrum of effects and the co-existence of other abnormalities, while unknown, is likely. The gestational age at which infection occurs is important in other congenital infections, such as cytomegalovirus and toxoplasmosis, and it is probable that ZIKV infection poses the greatest risk in early pregnancy, although effects throughout pregnancy cannot be excluded confidently7. As the situation is evolving rapidly, this guidance will be updated periodically. National guidelines should be followed regarding testing. Expert opinion should be sought from national reference laboratories. In general, testing for ZIKV is possible in maternal serum by reverse transcription PCR (RT-PCR) or detection of ZIKV-specific IgM antibodies8, 9. The limitation of RT-PCR testing is that it can detect ZIKV only during, or immediately following, acute infection. ZIKV IgM testing is problematic because of cross-reactivity with other Flaviviruses and some immunizations. This may lead to an unreliably high false-positive rate of ZIKV serological testing, but negative serology results may be of value in 'ruling out' past ZIKV infection. Expert interpretation of both is required and is beyond the scope of this guidance. In pregnant women with ZIKV exposure and symptoms, positive Flavivirus serology or proven ZIKV infection, or in those with exposure and/or symptoms but who have not had positive serology results, referral for detailed ultrasound assessment is appropriate. A baseline ultrasound scan should be performed on referral. As a minimum this should involve the following. If ultrasound assessment shows a fetal HC of 2 SD below the expected mean for gestational age, or a fetal brain abnormality (such as intracranial calcifications or ventriculomegaly), referral to a specialist center for detailed assessment, including neurosonography of the fetal brain, should be undertaken12. Most fetuses in which the only finding is a HC of 2 SD below the mean would be expected to represent the lower end of the normal population distribution. An interval scan in 2–3 weeks should be arranged14, 15. Given the current uncertainty, existing evidence and experience from prenatal imaging findings in other infections should be taken into account; these include the presence of irregularly shaped ventricular margins, increased periventricular echogenicity with or without cystic lesions, intraventricular adhesions, calcifications, callosal or vermian dysgenesis, small TCD, enlarged cisterna magna and/or increased amount of cerebrospinal fluid around the brain4, 13. Depending on local laws, pregnancy termination may be discussed, based on GA and severity of the findings. Uncertainties regarding the condition should be made clear. Standardized HC measurements should be undertaken and plotted on standards that take into account GA at birth and sex16, 17. The use of a single cut-off regardless of GA is not recommended18. This Interim Guidance was produced by the ISUOG ZIKV Rapid Response Group, members of which are: A. T. Papageorghiou, Fetal Medicine Unit, St George's University Foundation Hospitals NHS Trust, London, and Nuffield Department of Obstetrics and Gynaecology, University of Oxford, Oxford, UK B. Thilaganathan, Fetal Medicine Unit, St George's University Foundation Hospitals NHS Trust, London, UK C. M. Bilardo, Department of Obstetrics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands A. Ngu, East Melbourne Ultrasound, East Melbourne, VIC, Australia G. Malinger, Division of Ultrasound in Obstetrics & Gynecology, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel M. Herrera, Maternal Fetal Medicine Department, Colombian University Clinic, Colsanitas Clinic, Bogota, Colombia L. J. Salomon, Department of Obstetrics and Maternal-Fetal Medicine, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, Université Paris Descartes, Paris, France L. E. Riley, Obstetrics and Gynecology, Massachusetts General Hospital, Boston, MA, USA J. A. Copel, Department of Obstetrics, Gynecology and Reproductive Sciences, Yale School of Medicine, New Haven, CT, USA This Interim Guidance should be cited as: 'Papageorghiou AT, Thilaganathan B, Bilardo CM, Ngu A, Malinger G, Herrera M, Salomon LJ, Riley LE, Copel JA. ISUOG Interim Guidance on ultrasound for Zika virus infection in pregnancy: information for healthcare professionals. Ultrasound Obstet Gynecol 2016; 47: 530–532.' Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

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Hypoplasia of Cerebellar Vermal Lobules VI and VII in Autism

1988-05-26

Eric Courchesne , Rachel Yeung-Courchesne , John R. Hesselink +1 more

Autism is a neurologic disorder that severely impairs social, language, and cognitive development. Whether autism involves maldevelopment of neuroanatomical structures is not known. The size of the cerebellar vermis in … Autism is a neurologic disorder that severely impairs social, language, and cognitive development. Whether autism involves maldevelopment of neuroanatomical structures is not known. The size of the cerebellar vermis in patients with autism was measured on magnetic resonance scans and compared with its size in controls. The neocerebellar vermal lobules VI and VII were found to be significantly smaller in the patients. This appeared to be a result of developmental hypoplasia rather than shrinkage or deterioration after full development had been achieved. In contrast, the adjacent vermal lobules I to V, which are ontogenetically, developmentally, and anatomically distinct from lobules VI and VII, were found to be of normal size. Maldevelopment of the vermal neocerebellum had occurred in both retarded and nonretarded patients with autism. This localized maldevelopment may serve as a temporal marker to identify the events that damage the brain in autism, as well as other neural structures that may be concomitantly damaged. Our findings suggest that in patients with autism, neocerebellar abnormality may directly impair cognitive functions that some investigators have attributed to the neocerebellum; may indirectly affect, through its connections to the brain stem, hypothalamus, and thalamus, the development and functioning of one or more systems involved in cognitive, sensory, autonomic, and motor activities; or may occur concomitantly with damage to other neural sites whose dysfunction directly underlies the cognitive deficits in autism.

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"Crossed cerebellar diaschisis" in human supratentorial brain infarction.

1981-01-01

Jean‐Claude Baron , M G Bousser , D. Comar +1 more

A normative spatiotemporal MRI atlas of the fetal brain for automatic segmentation and analysis of early brain growth

2017-03-22

Ali Gholipour , Caitlin K. Rollins , Clemente Velasco‐Annis +7 more

Abstract Longitudinal characterization of early brain growth in-utero has been limited by a number of challenges in fetal imaging, the rapid change in size, shape and volume of the developing … Abstract Longitudinal characterization of early brain growth in-utero has been limited by a number of challenges in fetal imaging, the rapid change in size, shape and volume of the developing brain, and the consequent lack of suitable algorithms for fetal brain image analysis. There is a need for an improved digital brain atlas of the spatiotemporal maturation of the fetal brain extending over the key developmental periods. We have developed an algorithm for construction of an unbiased four-dimensional atlas of the developing fetal brain by integrating symmetric diffeomorphic deformable registration in space with kernel regression in age. We applied this new algorithm to construct a spatiotemporal atlas from MRI of 81 normal fetuses scanned between 19 and 39 weeks of gestation and labeled the structures of the developing brain. We evaluated the use of this atlas and additional individual fetal brain MRI atlases for completely automatic multi-atlas segmentation of fetal brain MRI. The atlas is available online as a reference for anatomy and for registration and segmentation, to aid in connectivity analysis, and for groupwise and longitudinal analysis of early brain growth.

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DeepIGeoS: A Deep Interactive Geodesic Framework for Medical Image Segmentation

2018-06-01

Guotai Wang , María A. Zuluaga , Wenqi Li +7 more

Accurate medical image segmentation is essential for diagnosis, surgical planning and many other applications. Convolutional Neural Networks (CNNs) have become the state-of-the-art automatic segmentation methods. However, fully automatic results may … Accurate medical image segmentation is essential for diagnosis, surgical planning and many other applications. Convolutional Neural Networks (CNNs) have become the state-of-the-art automatic segmentation methods. However, fully automatic results may still need to be refined to become accurate and robust enough for clinical use. We propose a deep learning-based interactive segmentation method to improve the results obtained by an automatic CNN and to reduce user interactions during refinement for higher accuracy. We use one CNN to obtain an initial automatic segmentation, on which user interactions are added to indicate mis-segmentations. Another CNN takes as input the user interactions with the initial segmentation and gives a refined result. We propose to combine user interactions with CNNs through geodesic distance transforms, and propose a resolution-preserving network that gives a better dense prediction. In addition, we integrate user interactions as hard constraints into a back-propagatable Conditional Random Field. We validated the proposed framework in the context of 2D placenta segmentation from fetal MRI and 3D brain tumor segmentation from FLAIR images. Experimental results show our method achieves a large improvement from automatic CNNs, and obtains comparable and even higher accuracy with fewer user interventions and less time compared with traditional interactive methods.

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SonoNet: Real-Time Detection and Localisation of Fetal Standard Scan Planes in Freehand Ultrasound

2017-07-11

Christian F. Baumgartner , Konstantinos Kamnitsas , Jacqueline Matthew +5 more

Identifying and interpreting fetal standard scan planes during 2-D ultrasound mid-pregnancy examinations are highly complex tasks, which require years of training. Apart from guiding the probe to the correct location, … Identifying and interpreting fetal standard scan planes during 2-D ultrasound mid-pregnancy examinations are highly complex tasks, which require years of training. Apart from guiding the probe to the correct location, it can be equally difficult for a non-expert to identify relevant structures within the image. Automatic image processing can provide tools to help experienced as well as inexperienced operators with these tasks. In this paper, we propose a novel method based on convolutional neural networks, which can automatically detect 13 fetal standard views in freehand 2-D ultrasound data as well as provide a localization of the fetal structures via a bounding box. An important contribution is that the network learns to localize the target anatomy using weak supervision based on image-level labels only. The network architecture is designed to operate in real-time while providing optimal output for the localization task. We present results for real-time annotation, retrospective frame retrieval from saved videos, and localization on a very large and challenging dataset consisting of images and video recordings of full clinical anomaly screenings. We found that the proposed method achieved an average F1-score of 0.798 in a realistic classification experiment modeling real-time detection, and obtained a 90.09% accuracy for retrospective frame retrieval. Moreover, an accuracy of 77.8% was achieved on the localization task.

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Sonographic examination of the fetal central nervous system: guidelines for performing the ‘basic examination’ and the ‘fetal neurosonogram’

2007-01-01

G. Malinger , Ana Monteagudo , G. Pilu +2 more

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Normal growth, sexual dimorphism, and lateral asymmetries of the fetal posterior fossa during the late second and third trimesters

2025-06-23

Yingxin Chen , Xue He , Caixing Zheng +4 more | Research Square (Research Square)

<title>Abstract</title> BACKGROUND AND PURPOSE It is important to obtain the accurate volumetric characterization of fetal posterior fossa growth at MRI. This study aims to analyze the normal growth, sexual dimorphism, … <title>Abstract</title> BACKGROUND AND PURPOSE It is important to obtain the accurate volumetric characterization of fetal posterior fossa growth at MRI. This study aims to analyze the normal growth, sexual dimorphism, and lateral asymmetries of the fetal posterior fossa during the late second and third trimesters. MATERIALS AND METHODS 100 fetuses of 23–40 weeks gestational age (GA) with normal brain development were retrospectively included in this study. The bilateral posterior fossa and cerebellar hemisphere, brainstem (including midbrain, pons, and medulla oblongata) were manually segmented on the in vivo fetal MRIs. The normal growth, sexual dimorphism, and lateral asymmetries were analyzed after their volumes were obtained. RESULTS The posterior fossa volume (PFV) linearly increased with GA. The right posterior fossa volume (RPFV) was significantly larger than that of the left. The left posterior fossa volume (LPFV) increased slightly faster than that of the right. The cerebellar volume (CV) increased in the form of power functions with GA. The right cerebellar volume (RCV) was significantly larger than the left cerebellar volume (LCV). The bilateral CVs had a similar growth rate, which apparently accelerated and faster than that of the PFV after 35 weeks GA. The brainstem volume (BSV) linearly increased with GA. The pontine volume (PV) increased the fastest, followed by the midbrain volume (MV), and the medullary volume (MEV) increased the slowest. The relationship between volume of the cerebrospinal fluid (CFV) in posterior fossa and GA was described adequately by a second-order polynomial curve, which increased before 30 weeks GA, while gradually decreased after 35 weeks GA. There were no sexual dimorphisms found in all the measurements. CONCLUSIONS Development of the fetal posterior fossa follows a specific spatiotemporal regularity, and the volumetric measurements demonstrate structure-specific and GA-related developmental trajectories, with different growth rates and lateral asymmetries. The present results are valuable in assessment of normal fetal posterior fossa development in the uterus.

Agenesis of Corpus Callosum: A Clinical Study of Complete Versus Partial Agenesis in a 20-Year Retrospective Cohort

2025-06-22

Rudmila Rashid , Ashley Bach , Juliana Gebb +7 more | Journal of Child Neurology

Agenesis of the corpus callosum (ACC) has a wide spectrum of anatomic manifestations associated with incompletely understood clinical variability. In this retrospective cohort study, 161 children with ACC were classified … Agenesis of the corpus callosum (ACC) has a wide spectrum of anatomic manifestations associated with incompletely understood clinical variability. In this retrospective cohort study, 161 children with ACC were classified into complete ACC and partial ACC. Partial and complete ACC diagnoses were confirmed by postnatal magnetic resonance imaging (MRI) and further classified as isolated or complex (associated with other brain abnormalities or genetic diagnoses). Clinical characteristics, clinical outcomes, and co-occurring genetic variations were collected by chart review. Median age at last neurologic evaluation for the complete and partial ACC cohorts were 2.8 years and 2.3 years, respectively; thus, an average of 2-3 years of follow-up data were analyzed per patient. Results showed that children with complete and partial ACC had similar birth characteristics. Children with complete ACC were more frequently diagnosed prenatally; additionally, complete ACC patients had lower rates of cerebral palsy. When comparing complex complete ACC and complex partial ACC to isolated complete ACC and isolated partial ACC, respectively, the complex subcohorts had a higher level of motor delay, assistive device use, cerebral palsy, ventriculoperitoneal shunt placement, epilepsy, language delay, and cognitive delay than the isolated subcohorts. About 50% of children had genetic variants associated with neurodevelopmental disorders in this cohort. Additionally, >50% of our patients with motor and nonmotor developmental delays, as well as >60% of patients that required assistive devices and had cerebral palsy, were also found to have genetic anomalies. Although research describing ACC and its outcomes is expanding, there is still a need for large cohort studies with robust follow-up data to help further understand the disease.

A unilateral open-lip schizencephaly in a neonate: A rare case report

2025-06-21

Seth Kwadjo Angmorterh , Kafui Kossi Kekessie , Riaan van de Venter +7 more | Radiology Case Reports

Hypoplasia of the adenohypophysis

2025-06-20

Jose luis Woo García | Radiopaedia.org

Making sense of the unexpected: neural tube defects in Ethiopia

2025-06-19

Markus Roos Breines , Mohammed Aliyi , Kidist Asnake +6 more | Discover Social Science and Health

Utilization of MRI in Fetal Surgery

2025-06-19

Wei Bian , Weizeng Zheng , Zesi Liu +2 more | iRadiology

ABSTRACT Advances in fetal surgery techniques have enabled the treatment of certain congenital defects before birth. A critical area of focus is the role of perinatal imaging in optimizing prenatal … ABSTRACT Advances in fetal surgery techniques have enabled the treatment of certain congenital defects before birth. A critical area of focus is the role of perinatal imaging in optimizing prenatal interventions within the precision medicine framework. Magnetic resonance imaging (MRI) is emerging as an indispensable tool for guiding these intricate procedures with the potential to significantly enhance the standard of care and outcomes for affected fetuses. This review begins with an overview of the classification and indications for fetal surgical interventions. It then explores the detailed applications of prenatal MRI scanning and diagnostic techniques across various categories of fetal surgery. A key focus is how fetal MRI provides critical insights into specific lesion characteristics and tissue involvement, thereby aiding healthcare professionals in selecting the optimal surgical strategies for prenatal and postnatal interventions. Fetal MRI offers detailed visualizations that complement traditional ultrasound findings, enhancing the precision of radiological planning for fetal surgery. Finally, the review highlights how integration of fetal MRI into the decision‐making process enables healthcare providers to make well‐informed choices, ultimately improving the prognosis and outcomes for both the mother and fetus.

A simple and quantitative ultrasonographic screening method for fetal Sylvian fissure abnormalities

2025-06-18

Cuixia Guo , Lijuan Sun , Yan Liu +5 more | European journal of medical research

Abstract Objective To explore a simple quantitative method for detecting fetal abnormal Sylvian fissure (SF) on ultrasonographic screening and to investigate its value in fetuses with SF abnormalities. Methods As … Abstract Objective To explore a simple quantitative method for detecting fetal abnormal Sylvian fissure (SF) on ultrasonographic screening and to investigate its value in fetuses with SF abnormalities. Methods As the control group, 128 patients were examined prospectively by 2D ultrasound from 22 to 31 gestational weeks. We measured the depth of the SF (SFD) and width of the SF (SFW) and defined a new parameter, namely, the SF ratio (SFR), as the ratio of the SFW to the SFD. Reference equations were constructed for the SF parameters and gestational age (GA). Thirty-eight fetuses with SF abnormalities were included in the study group. Results In total, 310 ultrasound examinations were performed on 128 patients in the control group. The plateau-like insula was always present, and the SFD, SFW, and SFR increased with increasing gestational weeks between 22 and 31 gestational weeks. SFD (mm) = −1.48GA 2 −0.02GA+16.81 ( R 2 = 0.803). SFW (mm) = 5.62GA 2 −0.08GA–79.34 ( R 2 = 0.880). SFR = 0.53GA 2 −0.01GA-6.55 ( R 2 = 0.619). The SFR was >0.7 from 22 to 24 gestational weeks and >1 after 25 gestational weeks in the control group. In the study group, the SFD, SFW, and SFR values were below the 5th percentile of the respective normal ranges in 26/38 (68.4%), 38/38 (100%), and 38/38 (100%) patients with abnormal SF. There were significant differences in three parameters between the two groups ( P <0.05). With respect to the final diagnosis, 30/38 (78.9%) fetuses had malformations of cortical development (MCD), and 8/38 (21.1%) fetuses had multiple CNS malformations. Conclusions The SFR was >0.7 from 22-24 gestational weeks, and a value >1 after 25 weeks may serve as a simple parameter for detecting abnormal SF. An abnormal SF tends to be an indicator of CNS anomalies, especially MCD.

Coexistence of epilepsy with eyelid myoclonia, schizoaffective disorder, and cavum septi pellucidi et vergae: A case report

2025-06-18

Samwel Sylvester Msigwa , Suluma Aslan , Elizabeth Mareale +1 more | Epilepsy & Behavior Reports

Diffusion probabilistic generative models for accelerated, in‐NICU permanent magnet neonatal MRI

2025-06-17

Yamin Arefeen , Brett Levac , Bhairav Patel +2 more | Magnetic Resonance in Medicine

Abstract Purpose Magnetic Resonance Imaging (MRI) enables non‐invasive assessment of brain abnormalities during early life development. Permanent magnet scanners operating in the neonatal intensive care unit (NICU) facilitate MRI of … Abstract Purpose Magnetic Resonance Imaging (MRI) enables non‐invasive assessment of brain abnormalities during early life development. Permanent magnet scanners operating in the neonatal intensive care unit (NICU) facilitate MRI of sick infants, but have long scan times due to lower signal‐to‐noise ratios (SNR) and limited receive coils. This work accelerates in‐NICU MRI with diffusion probabilistic generative models by developing a training pipeline accounting for these challenges. Methods We establish a novel training dataset of clinical, 1 Tesla neonatal MR images in collaboration with Aspect Imaging and Sha'are Zedek Medical Center. We propose a pipeline to handle the low quantity and SNR of our real‐world dataset (1) modifying existing network architectures to support varying resolutions; (2) training a single model on all data with learned class embedding vectors; (3) applying self‐supervised denoising before training; and (4) reconstructing by averaging posterior samples. Retrospective under‐sampling experiments, accounting for signal decay, evaluated each item of our proposed methodology. A clinical reader study with practicing pediatric neuroradiologists evaluated our proposed images reconstructed from under‐sampled data. Results Combining all data, denoising pre‐training, and averaging posterior samples yields quantitative improvements in reconstruction. The generative model decouples the learned prior from the measurement model and functions at two acceleration rates without re‐training. The reader study suggests that proposed images reconstructed from under‐sampled data are adequate for clinical use. Conclusion Diffusion probabilistic generative models applied with the proposed pipeline to handle challenging real‐world datasets could reduce the scan time of in‐NICU neonatal MRI.

Variable Flip Angle Optimization for Fetal Brain Imaging With Reduced Specific Absorption Rate

2025-06-16

Dominique Franson , Camilo Calixto , Hongli Fan +7 more | NMR in Biomedicine

ABSTRACT Half‐Fourier Acquisition with Single‐Shot Turbo Spin Echo (HASTE) scans are routinely used for fetal brain imaging, but they have a high specific absorption rate (SAR) and can be inefficient … ABSTRACT Half‐Fourier Acquisition with Single‐Shot Turbo Spin Echo (HASTE) scans are routinely used for fetal brain imaging, but they have a high specific absorption rate (SAR) and can be inefficient due to SAR limits. Here, we have designed an optimized variable flip angle (VFA) pattern for fetal HASTE neuroimaging to reduce both the SAR and repetition time (TR) of the HASTE sequence while maintaining similar image quality to standard fetal HASTE imaging with a constant flip angle (CFA). The VFA pattern was optimized by minimizing the difference in expected signal between the VFA and CFA scans while constraining the SAR of the VFA scan to no more than 65% of the SAR of the CFA scan and reducing the TR by 29%. The expected signal was calculated using an extended phase graph formalism, and simulations were used to predict the performance of the two scans using different image quality metrics. The proposed VFA and standard CFA scans were tested in phantoms and fetuses at 3 T. SAR and acquisition times were recorded, and image quality was rated by three radiologists. The VFA scan showed similar signal‐to‐noise ratio and contrast‐to‐noise ratio values but slightly lower signal and relative contrast values than the CFA scan in phantom studies. In vivo, the VFA scan yielded significantly reduced SAR, measurement times, and total scan times. There was no significant difference in overall image quality ratings between the VFA and CFA scans. An optimized VFA scan can provide 65% of the SAR and 71% of the acquisition time of a CFA scan while being diagnostically equivalent. Lower SAR reduces heating, eliminates SAR pauses, and allows accelerated scans by reducing the TR. The time saved by faster HASTE acquisitions increases patient comfort and may be used to repeat scans with excessive fetal motion or to perform advanced sequences.

Prenatal diagnosis of infratentorial anomalies: ultrasound, fetal MRI, and implications for counseling

2025-06-16

Teresa Chapman , David M. Mirsky , Jesus Igor Iruretagoyena +1 more | Pediatric Radiology

Abstract Assessment of the fetal brain is a routine part of standard and detailed prenatal ultrasound. Further evaluation of central nervous system abnormalities identified by prenatal ultrasound is a common … Abstract Assessment of the fetal brain is a routine part of standard and detailed prenatal ultrasound. Further evaluation of central nervous system abnormalities identified by prenatal ultrasound is a common indication for fetal MRI. Infratentorial malformations identified by diagnostic imaging may be isolated or may occur with supratentorial anomalies and with multisystemic anomalies or syndromes. The interpretation of posterior fossa abnormalities and their implications for diagnosis and prenatal counseling can benefit from recognizing the dominant morphological feature. This review discusses the ultrasound and MRI characteristics of developmental anomalies affecting the cerebellum and brainstem, focusing on their primary imaging characteristic: cystic anomalies, cerebellar dysgenesis, and brainstem malformations. Key findings on imaging are provided to guide the radiologist in arriving at a reasonable diagnosis. Genetic implications are also provided. Graphical Abstract

Dandy-Walker syndrome with hydrocephalus undergoing VPS or CPS?——A single-centre retrospective study

2025-06-16

Zhiqiang Liu , Bei Liu , Chaoqun Weng +4 more | Research Square (Research Square)

<title>Abstract</title> <bold>Objective: </bold>Dandy-Walker syndrome (DWS) is often associated with hydrocephalus, yet the choice between lateral ventriculoperitoneal shunt (VPS) or posterior cranial fossa cystoperitoneal shunt (CPS) is still controversial. This retrospective … <title>Abstract</title> <bold>Objective: </bold>Dandy-Walker syndrome (DWS) is often associated with hydrocephalus, yet the choice between lateral ventriculoperitoneal shunt (VPS) or posterior cranial fossa cystoperitoneal shunt (CPS) is still controversial. This retrospective study aims to compare the clinical features , cranial imaging changes and prognosis before and after different these two surgical procedures.This research seeks to inform surgical decision-making in treating DWS-related hydrocephalus. <bold>Methods:</bold> Clinical data from 13 children with DWS-related hydrocephalus (1 case of Dandy-Walker malformation, 12 cases of Dandy-Walker variant) treated between January 2010 and June 2024 were retrospectively analyzed. Eight patients underwent VPS, and 5 received CPS. Follow-up outcomes were graded as good, fair, and ineffective. A good prognosis was defined by an EVANS index < 0.3, or ≥ 0.3 but without hydrocephalus or interstitial edema, and a Vineland Adaptive Behavior Scales (VABS) score ≥ 75. Fair prognosis indicated stable hydrocephalus (EVANS ≥ 0.3) with no cerebral or interstitial edema and VABS scores of 60–75. Ineffective prognosis reflected unrelieved hydrocephalus and VABS < 60. <bold>Results: </bold>Follow-up ranged from 3 months to 13 years, yielding 10 good and 3 fair outcomes. Of 8 VPS cases, 6 achieved normal postoperative ventricular size, while 2 had mild to moderate dilation. Seven showed good cerebellar vermis development, with all achieving a good prognosis. Among 5 CPS cases, 2 had mild ventricular dilatation, 3 moderate ventricular dilatation, and 3 showed cerebellar vermis dysplasia. One case retained a cerebellar vermis defect postoperatively. Good prognosis was observed in 2 CPS cases and fair prognosis in 3. Shunt type correlated significantly with prognosis (X² = 6.24, <italic>P </italic>= 0.035), postoperative ventricular size (X² = 6.96, <italic>P</italic> = 0.021), and postoperative cerebellar earthworm development (X² = 5.92, <italic>P</italic> = 0.0319). In good prognosis cases, 8 had well-developed cerebellar earthworms, while 2 cases of lower earthwormsshowed underdevelopment. Among fair outcomes, 1 case lacked cerebellar earthworms development, and 2 showed underdevelopment, indicating a significant correlation between prognosis and cerebellar earthworms' development (X² = 6.24, <italic>P</italic> =0.035). <bold>Conclusion:</bold> Children with DWS-related hydrocephalus who undergo hydrocephalus correction via a single shunt exhibit a well-developed cerebral structure and may be better off with VP than with CP.

Fetal Sylvian Fissure Charts to Evaluate the Development of Fetal Brain using Prenatal MRI

2025-06-16

Shibao Lu , Yulin Song , Ran Li +4 more | Research Square (Research Square)

<title>Abstract</title> <bold>Objective</bold>: To explore the normal developmental pattern of the sylvian fissure (SF) in fetuses by MRI for better identifying cortical abnormalities in the early stage by quantifying the morphological … <title>Abstract</title> <bold>Objective</bold>: To explore the normal developmental pattern of the sylvian fissure (SF) in fetuses by MRI for better identifying cortical abnormalities in the early stage by quantifying the morphological characteristics. <bold>Methods: </bold>This study retrospectively evaluated the prenatal MRI of 324 normal singleton pregnancies at 22-38<sup>+6</sup> weeks of gestation (GA). Biparietal diameter (BPD), insula depth (ID), sylvian fissure width (SFW), uncovered insula length (UIL), uncovered insula rate (UIR), sylvian fissure depth (SFD), sylvian fissure anterior depth (SFAD), sylvian fissure posterior depth (SFPD), sylvian fissure superior depth (SFSD) and sylvian fissure inferior depth (SFID) were obtained in the axial and coronal position. Reproducibility for each parameter was assessed by 40 cases and verified via intraclass correlation coefficient (ICC). Analyze the correlation between above parameters and GA. Growth charts were drawn using an optimal fitting curve and correlation formula. A paired-sample t-test was used to compare the left-right disparities of the measured parameters, and an independent-sample t-test was used to compare the differences between SFAD and SFPD, and between SFID and SFSD. <bold>Results: </bold>The interobserver agreements were reproducible (ICC: 0.798-0.992). A range of reference for the correlative parameters of sylvian fissure at 22-38<sup>+6 </sup>weeks of normal gestation was established. The SF parameters showed a significant correlation with GA (|r| = 0.386 - 0.965, P< 0.05). In the axial plane, statistically significant differences were observed for SFW and UIR between the left and right sides. The length of SFPD was longer than that of SFAD on both sides with the differences reaching statistical significance (P < 0.05). while SFID was significantly longer than SFSD only on the left side (P < 0.05). <bold>Conclusion:</bold> The development of sylvian fissure is dynamic throughout gestation and is a reliable feature of fetal cortex gyration. We provide certain reference standards of prenatal MRI to assist in diagnosing abnormal fetal cerebral cortex development.

Unilateral cerebellar hypoplasia

2025-06-16

Ammar Haouimi | Radiopaedia.org

Congenital Intracranial Tumors: Prenatal Diagnosis by Fetal Magnetic Resonance Imaging

2025-06-16

Jing‐Ya Ren , Hui Ji , Zhu Ming +1 more | iRadiology

ABSTRACT Fetal intracranial tumors are rare, accounting for approximately 0.5%–1.9% of all pediatric tumors, though the true incidence may be underestimated. These tumors often present with distinct histopathological features, imaging … ABSTRACT Fetal intracranial tumors are rare, accounting for approximately 0.5%–1.9% of all pediatric tumors, though the true incidence may be underestimated. These tumors often present with distinct histopathological features, imaging characteristics, and clinical behavior compared to their postnatal counterparts. This review summarizes the current understanding of the prenatal diagnosis and characterization of fetal brain tumors, with a particular focus on the role of fetal magnetic resonance imaging (MRI). We discuss the advantages of advanced MR sequences in enhancing lesion detection and anatomical delineation following suspicious findings on obstetric ultrasound. Common tumor types encountered in utero—including teratomas, astrocytomas, medulloblastomas, choroid plexus papillomas, and craniopharyngiomas—are reviewed in terms of imaging features, differential diagnosis, and clinical implications. Furthermore, the review addresses the diagnostic challenges, prognostic considerations, and the potential role of fetal MRI in guiding perinatal management and parental counseling.

Malformations of cortical development: Embryology and epilepsy

2025-06-16

M. Christianne Hoeberigs , Simon Tousseyn | Epilepsia

Abstract One in seven patients with focal epilepsy has a malformation of cortical development (MCD) as underlying cause. Understanding normal cortical development combined with knowledge of where, when, and what … Abstract One in seven patients with focal epilepsy has a malformation of cortical development (MCD) as underlying cause. Understanding normal cortical development combined with knowledge of where, when, and what goes wrong in different types of MCD provides insight into the mechanisms of epileptogenesis. Three different steps can be distinguished in the development of the neocortex: proliferation, migration, and organization. These three steps occur at different locations, partly overlapping in time. In this review, we illustrate and correlate normal embryology to the most common MCDs in epilepsy, namely, focal cortical dysplasia, heterotopia, and polymicrogyria, with discriminating imaging findings and clinical implications. By integrating current literature on embryology and imaging findings, we aim to provide insight into classification of cortical malformations and the consequences for workup and treatment. Illustrations of normal cortical embryology and early fetal development are supplemented with magnetic resonance images from our tertiary epilepsy center showing the three most frequently encountered malformations: focal cortical dysplasia (approximately half of identified MCDs at our center, consistent with literature), heterotopia (one third), and polymicrogyria (approximately 10%).

Correction: Posterior vault encephaloceles: from antenatal management to post-surgical follow-up—a cooperative study

2025-06-14

Claudia Pasquali , Ulrich-Wilhelm Thomale , Alexandru Szathamri +5 more | Child s Nervous System

Uncovering ethical biases in publicly available fetal ultrasound datasets

2025-06-13

Maria Chiara Fiorentino , Sara Moccia , Mariachiara Di Cosmo +3 more | npj Digital Medicine

A Clearer Picture: MRI's Expanding Role in High‐Risk Pregnancy Care

2025-06-13

Su‐Zhen Dong , Fu‐Tsuen Lee , Lianxiang Xiao +1 more | iRadiology

MPDZ Pathogenic Variants Cause Obstructive Ventriculomegaly Related to Diencephalosynapsis and Third Ventricle Atresia

2025-06-13

Sara Cabet , Jean‐François Ghersi‐Egea , Suonavy Khung +7 more | Genes

Ventriculomegaly is the main prenatal imaging feature for diagnosing fetal central nervous system anomalies in humans. Many ventriculomegalies can be related to genetic causes, regardless of their imaging presentations. Among … Ventriculomegaly is the main prenatal imaging feature for diagnosing fetal central nervous system anomalies in humans. Many ventriculomegalies can be related to genetic causes, regardless of their imaging presentations. Among these, MPDZ variants have been reported to cause severe ventriculomegaly inherited in an autosomal recessive manner (OMIM#615219). Several hypotheses have been put forward linking MPDZ variants to ventriculomegaly, but the precise underlying mechanisms, in particular whether its origin is obstructive or non-obstructive, are yet to be elucidated. To address this question, we retrospectively analyzed pre- and postnatal neuro-imaging and neuropathological data for cases of ventriculomegaly in which MPDZ variants were found through exome or genome sequencing. We performed anti-MPDZ immunostaining on fetal brain samples. We analyzed six cases (four fetuses and two children) of ventriculomegaly of variable severities with MPDZ variants. The precise analysis of brain MRI data, corroborated by fetopathological examinations, demonstrated an obstructive pattern of ventriculomegaly upstream from partial fusion of the thalami, also called diencephalosynapsis, with partial atresia of the third ventricle, which could extend to Sylvius's aqueduct. The morphological analysis using targeted brain magnetic resonance imaging (MRI) and neuropathological data allowed us to unravel the underlying mechanisms of congenital ventriculomegaly related to MDPZ variants.

Type 2A Pontocerebellar Hypoplasia, A Rare Cause of Psychomotor Delay: A Case Report

2025-06-12

Moutabarrik , Hind Lachraf , Saliha Moussaoui +2 more | Asian Journal of Medicine and Health

Aims: This case report aims to describe a child with type 2A pontocerebellar hypoplasia (PCH2), whose clinical features were suggestive but non-specific, emphasizing the diagnostic value of neuroimaging and genetic … Aims: This case report aims to describe a child with type 2A pontocerebellar hypoplasia (PCH2), whose clinical features were suggestive but non-specific, emphasizing the diagnostic value of neuroimaging and genetic testing. Presentation of Case: A 4-year-old girl, born at term from a consanguineous marriage, presented with feeding difficulties, neonatal hypotonia, psychomotor delay, epilepsy, and dyskinesia from 5 months of age. Examination revealed microcephaly, failure to thrive, spasticity, and clonus. Brain MRI showed hypoplasia of the cerebellar vermis. EEG indicated background slowing; visual evoked potentials were normal. Genetic testing revealed a homozygous mutation in the TSEN54 gene (17q25.1), confirming PCH2. She was treated with Levetiracetam, Clobazam, and Trihexyphenidyl. Discussion: PCH2 is a rare autosomal recessive neurogenetic disorder linked to TSEN54 mutations. It typically presents neonatally with motor, feeding, and respiratory dysfunction, later progressing to severe neurological impairment. Diagnosis is based on clinical, radiological, and genetic findings. Due to its hereditary nature, genetic counseling is critical. Conclusion: This case highlights the need to consider PCH2 in infants with early-onset neurological symptoms. Neuroimaging and genetic studies are essential for diagnosis. Multidisciplinary care and genetic counseling are key in managing such patients.

Feasibility and Validity of Ultra- Low-Field MRI for Measurement of Regional Infant Brain Volumes in Structures Associated with Antenatal Maternal Anemia

2025-06-11

Jessica E. Ringshaw , Niall Bourke , Michal R. Zieff +7 more | medRxiv (Cold Spring Harbor Laboratory)

ABSTRACT Introduction The availability of ultra- low-field (ULF) magnetic resonance imaging (MRI) has the potential to improve neuroimaging accessibility in low-resource settings. However, the utility of ULF MRI in detecting … ABSTRACT Introduction The availability of ultra- low-field (ULF) magnetic resonance imaging (MRI) has the potential to improve neuroimaging accessibility in low-resource settings. However, the utility of ULF MRI in detecting child brain changes associated with anemia is unknown. Aim The aim of this study was to assess the comparability of 3T high-field (HF) and 64mT ULF volumes in infants for brain regions associated with antenatal maternal anemia. Method This neuroimaging sub-study is nested within Khula South Africa, a population-based birth cohort. Pregnant women were enrolled antenatally and postnatally, and mother-child dyads ( n = 394) were followed prospectively at approximately 3, 6, 12 and 18 months. A sub-group of infants was scanned on 3T and 64mT MRI systems across study visits and images were segmented using MiniMORPH. Correlations and concordance coefficients were used to cross-validate HF and ULF infant brain volumes for the caudate nucleus, putamen, and corpus callosum. Results 78 children (53.85% male) had paired HF ( Mean [ SD ] age = 9.64 [5.26] months) and ULF ( Mean [ SD ] age = 9.47 [5.32] months) datasets. Results indicated strong agreement between systems for intracranial volume (ICV; r = 0.96, ρ ccc = 0.95), and brain regions of interest in anemia including the caudate ( r = 0.89, ρ ccc = 0.86), putamen ( r = 0.97, ρ ccc = 0.96), and corpus callosum ( r = 0.87, ρ ccc = 0.79). Conclusion This cross-validation study demonstrates excellent correspondence between 3T and 64mT volumes for infant brain regions implicated in antenatal maternal anemia. Findings validate the use of ULF MRI for paediatric neuroimaging on anemia in Africa. HIGHLIGHTS This cross-validation study is the first to compare HF and ULF volume estimates for infant brain regions previously found to be associated with antenatal maternal anemia within the first two years of life. Key findings of this research demonstrate linear associations and strong agreement between HF and ULF volume estimates for the caudate nucleus, putamen, and corpus callosum in infants between 3-18 months of age. Improved correspondence between HF and ULF MRI was observed in older infants, particularly for basal ganglia structures. These novel findings validate the use of ULF MRI for paediatric neuroimaging work on antenatal maternal anemia and other prevalent health priorities in low- and middle-income countries. GRAPHICAL ABSTRACT This cross-validation study assessed the comparability of high-field (3T) and ultra- low-field (64mT) volumes in infants for brain regions associated with antenatal maternal anemia. Key findings demonstrated strong agreement between HF and ULF volume estimates for the caudate nucleus, putamen, and corpus callosum in infants between 3-18 months of age.

Diagnostic clues and pitfalls in pontocerebellar hypoplasia type 2A

2025-06-11

Antonia Herrmann , Alice Kuhn , Maren Hackenberg +6 more | medRxiv (Cold Spring Harbor Laboratory)

Abstract Introduction Pontocerebellar hypoplasia type 2A (PCH2A) is a rare autosomal recessive neurodegenerative disease caused by a specific pathogenic variant in the TSEN54 gene (p.A307S). Affected children show early but … Abstract Introduction Pontocerebellar hypoplasia type 2A (PCH2A) is a rare autosomal recessive neurodegenerative disease caused by a specific pathogenic variant in the TSEN54 gene (p.A307S). Affected children show early but initially unspecific symptoms, diagnosed primarily through postnatal MRI, with confirmation by genetic testing. This study examines the diagnostic process and key considerations for accurate diagnosis. Patients and Methods We retrospectively collected data from 65 children (33 female, 32 male) with genetically confirmed PCH2A as part of a Natural History Study. Data were gathered via parental questionnaires, interviews, and medical reports. The cohort was divided into two groups based on year of birth: children born before (n=30) and after (n=35) the identification of the pathogenic variant in 2008. Results Prenatally, in 4 of 21 cases with specialized ultrasound (gestational weeks 12-32), only unspecific cerebebellar abnormalities were reported. One fetal MRI (week 31) revealed clear cerebellar hypoplasia, in two others (week 21 and 31), slight cerebellar abnormalities were reported. Postnatal neurosonography often indicated disease features (26/54), later confirmed by MRI (62/63). Clinical symptoms appeared at a median age of 0 months (range 0-6 months), often initially suggesting acute rather than congenital issues. In the group born after 2008, median time from first symptoms to genetic confirmation was 5 months. Conclusion PCH2A presents early with nonspecific symptoms. Prenatal and postnatal ultrasound imaging can fail to detect the condition, with MRI being the gold standard for diagnosis. Over time, the diagnostic process, including genetic confirmation, has become faster. Highlights - Diagnostic Challenges : Prenatal imaging fails to detect PCH2A - Postnatal Imaging : MRI 92% diagnostic sensitive, ultrasound misinterpretations - Genetic testing impact : Earlier PCH2A diagnosis in children born after 2008

Sculptors of cerebellar fissures and their potential as therapeutic targets for cerebellar dysfunction

2025-06-05

Chiu-Lun Shen , Yu-Young Tsai , Woan‐Yuh Tarn | Frontiers in Cellular Neuroscience

The cerebellum plays an important role in both motor control and cognition. The cerebellar cortex is neuron-rich and composed of characteristic folia and fissures. Defective cerebellar development leads to movement … The cerebellum plays an important role in both motor control and cognition. The cerebellar cortex is neuron-rich and composed of characteristic folia and fissures. Defective cerebellar development leads to movement disorders and developmental delay. During early morphogenesis, cellular signaling programs orchestrate simultaneous cerebellar growth and foliation. Aberrant signaling causes various degrees of cerebellar hypoplasia. Based on mouse genetic studies, we discuss several developmental signaling pathways that drive cerebellar morphogenesis. Notably, hypoplasia of vermal lobules VI-VII has been linked to autism spectrum disorder and is in part attributed to brain-derived neurotrophic factor (BDNF)/tropomyosin receptor kinase B signaling. This review also discusses how BDNF biogenesis is critical for cerebellar foliation and whether restoring BDNF signaling could reverse cerebellar developmental disorders.

Multimodal Validation of the Existence of Transitional Cerebellar Progenitors in the Human Fetal Cerebellum

2025-06-03

Zaili Luo , Mingyang Xia , Feng Zhang +7 more | bioRxiv (Cold Spring Harbor Laboratory)

The developing human cerebellum comprises a series of transient progenitor states that are essential for generating diverse neural subtypes, yet the identity and validation of intermediate cell populations bridging stem-like … The developing human cerebellum comprises a series of transient progenitor states that are essential for generating diverse neural subtypes, yet the identity and validation of intermediate cell populations bridging stem-like and lineage-committed neuronal precursors remain limited. In our previous single-cell transcriptomic study, we identified a distinct transitional cerebellar progenitor (TCP) population enriched in specific progenitor domains such as the rhombic lip during human fetal cerebellar development. Here, we provide additional multimodal validations of this population. Rigorous reanalysis of our single-cell transcriptomic data, applying stringent quality control measures, validated the quality of TCP cells and their classification as a transcriptionally distinct population. Orthogonal validation of TCP signature genes (SOX11 and HNRNPH1) using RNAscope in situ hybridization and immunohistochemistry on additional fetal cerebellar samples demonstrated the consistent presence of TCPs in the rhombic lip, transitioning from PRTG⁺ stem-like zones in the ventricular zone at early developmental stages to the subventricular zone overlapping with EOMES⁺ unipolar brush cell precursors at later stages. TCP-like populations were also independently identified in two fetal cerebellar single-nucleus transcriptomic atlases, and their gene signature was enriched in a cell population associated with aggressive medulloblastomas. Collectively, these multimodal validations confirm the existence of a transitional progenitor population in the human fetal cerebellum, with implications for cerebellar lineage progression and medulloblastoma origin.

Advancements in MRI application in the morphological development of fetal cerebral venous system: a review

2025-06-02

Xueying Zhao , Yimin Cao , Zexi Yi +4 more | Child s Nervous System

Resonancia magnética fetal en patología de cabeza y cuello

2025-06-01

E. García Vázquez , Ignacio Delgado Álvarez , Ángel Sanchez-Montañez García-Carpintero +4 more | Radiología

A Term Neonate With Severe Fetal Brain Ventriculomegaly

2025-06-01

Medha Goyal , Dwayne Mascarenhas , Ruchi Nanavati | NeoReviews

Retention cyst of Rosenmüller fossa

2025-06-01

Vu Khoi | Radiopaedia.org

Prenatal Diagnosis of Arachnoid Cysts Without Extra‐Central Nervous System Anomalies in the Korean Population: A Multi‐Center Retrospective Study on Postnatal Diagnosis and Clinical Outcomes

2025-06-01

Subeen Hong , Young Mi Jung , Hyun‐Joo Seol +7 more | Molecular Genetics & Genomic Medicine

ABSTRACT Background The aim of our study was to investigate the clinical characteristics, discrepancies in postnatal diagnosis, and outcomes of prenatally diagnosed arachnoid cysts without extra‐CNS anomalies. Methods This study … ABSTRACT Background The aim of our study was to investigate the clinical characteristics, discrepancies in postnatal diagnosis, and outcomes of prenatally diagnosed arachnoid cysts without extra‐CNS anomalies. Methods This study was a multi‐center retrospective cohort study from 16 participating university hospitals in South Korea, with patient data pooled from January 2010 to December 2019. This study focused on cases with prenatally diagnosed arachnoid cysts and analyzed postnatal diagnoses related to CNS anomalies, the need for surgery, and clinical outcomes. Results Thirty‐seven fetuses with fetal arachnoid cysts were ultimately included in our analysis. These included 27 supratentorial cysts and 10 posterior fossa cysts, with 11 cases (29.7%) presenting associated CNS anomalies. The most common associated anomalies were ventriculomegaly (18.9%) and callosal abnormalities (10.8%). No chromosomal abnormalities were detected during antenatal care. Postnatal regression was observed in 14.8% of supratentorial cysts and 10.0% of posterior fossa cysts. Neurologic complications, present in 21.6% of all cases, were more prevalent in cases with associated CNS anomalies compared to isolated arachnoid cysts. Conclusion In cases diagnosed with prenatal arachnoid cysts, ventriculomegaly and callosal anomalies are the most commonly associated CNS anomalies. The presence of additional CNS anomalies is the most critical factor affecting neurologic outcomes.

The Predictive Value of Dry Brain Sign for Open Spina Bifida at First Trimester Anomaly Scan: A Case-Control study

2025-06-01

Hesham Kamal El Din Abd El Fatah El Emam , Hend Galal Eldeen Mohamed Ali Hassan , Sahar Mohamed El Feky +1 more | Academic Radiology

EARLY-ONSET SCHIZOPHRENIA AND AGENESIS OF THE CORPUS CALLOSUM: A CASE REPORT AND LITERATURE REVIEW

2025-05-31

H. Ballyout , S. Karroumi , O. Bounsir +5 more | International Journal of Advanced Research

This article presents a clinical case of a 17-year-old adolescent with early-onset schizophrenia associated with partial agenesis of the corpus callosum. We discuss the rarity of this association and its … This article presents a clinical case of a 17-year-old adolescent with early-onset schizophrenia associated with partial agenesis of the corpus callosum. We discuss the rarity of this association and its importance in the evaluation of neurodevelopmental disorders. We also highlight the diagnostic and therapeutic challenges encountered in this context. Through a review of recent literature, we examine the links between agenesis of the corpus callosum and schizophrenia and explore the neurobiological perspectives of this association.

Porencephaly

2025-05-31

Mehdi Benmansour | Radiopaedia.org

Thick Corpus Callosum: An Unusual Finding of <scp>TUBGCP2</scp>‐Related Tubulinopathy

2025-05-30

Tuna Eren Esen , Didem Ardıçlı , Avni Merter Keçeli +1 more | American Journal of Medical Genetics Part A

ABSTRACT Tubulinopathies are a group of neurologic disorders caused by mutations in tubulin‐related genes, characterized by a broad spectrum of cortical malformations. These disorders are typically associated with a thin … ABSTRACT Tubulinopathies are a group of neurologic disorders caused by mutations in tubulin‐related genes, characterized by a broad spectrum of cortical malformations. These disorders are typically associated with a thin or normal corpus callosum, while a thick corpus callosum has been rarely documented. This study reports the first known case of a homozygous insertion variant in the TUBGCP2 gene associated with a thick corpus callosum. A 2‐year‐old male of Turkish origin presenting with microcephaly, developmental delay, distinctive facial features, and hypertonia. Brain MRI revealed cortical malformations consistent with the pachygyria‐polymicrogyria complex, as well as a thickened corpus callosum. Exome sequencing identified a homozygous NM_006659.4:c.2647dupC p.(Gln883Profs*62) variant in the TUBGCP2 gene, which was confirmed by Sanger sequencing. This case expands both the genotypic and phenotypic spectrums of TUBGCP2‐related tubulinopathies by reporting a homozygous TUBGCP2 variant in a patient with a thick corpus callosum, suggesting that TUBGCP2 variants may influence corpus callosum morphology in a more variable manner than previously understood.

CCDC22 mutations that impair COMMD binding cause attenuated 3C/Ritscher-Schinzel syndrome

2025-05-30

Amika Singla , Carolyn Rogers , Mary-Joe Touma +7 more | BMC Medical Genomics

Dandy-Walker syndrome: an updated literature review

2025-05-30

María Isabel Ocampo-Navia , Wilfran Perez-Mendez , Maria Paula Rodriguez-Alvarez +2 more | Child s Nervous System

Abstract The Dandy-Walker syndrome (DWS) encompasses a group of anatomical midline cerebellar disorders with potential shared embryological origins, including the classic Dandy-Walker malformation, Blake’s pouch cyst, and mega cisterna magna. … Abstract The Dandy-Walker syndrome (DWS) encompasses a group of anatomical midline cerebellar disorders with potential shared embryological origins, including the classic Dandy-Walker malformation, Blake’s pouch cyst, and mega cisterna magna. Genetic factors, chromosomal abnormalities, and environmental influences contribute to its etiology. DWS, occurring in 1 in 25,000 to 35,000 live births, often presents with hydrocephalus and other central nervous system anomalies. Clinical manifestations vary, with symptoms appearing from neonatal to adult stages. Diagnosis is performed through neuroimaging, evaluating the posterior fossa and associated anomalies. Management involves treating hydrocephalus, addressing associated anomalies, and providing neurological follow-up with a multidisciplinary team. Prognosis hinges on associated malformations and their severity, impacting long-term outcomes. An unsystematic updated review on the embryology, pathophysiology, diagnostic approach, and therapeutic management of DWS is presented.