Anomalies of the Corpus Callosum: An MR Analysis of the Phenotypic Spectrum of Associated Malformations (original) (raw)
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Morphometric variability of neuroimaging features in Children with Agenesis of the Corpus Callosum
BMC neurology, 2015
Agenesis of the corpus callosum (ACC) is a developmental brain malformation associated with a wide spectrum of structural brain abnormalities and genetic loci. To characterize the diverse callosal morphologies and malformations of brain development associated with ACC, we report on the neuroimaging findings of 201 individuals diagnosed with corpus callosal abnormalities. We searched through medical records of individuals seen at New York Presbyterian Hospital between 2002 and 2013 and thought to have ACC. We confirmed 201 individuals meeting criteria and used magnetic resonance imaging to characterize morphological variants of the corpus callosum and associated brain malformations. The majority of individuals displayed hypoplasia or dysplasia of the corpus callosum (N = 160, 80 %). Forty-one (20 %) displayed complete agenesis of the corpus callosum with other abnormalities, while only 18 (9 %) displayed complete agenesis without associated brain abnormalities. White matter abnormali...
Panacea Journal of Medical Sciences, 2023
Abstract Background: The corpus callosum is the largest connective fiber between two hemispheres and a crucial structure for the integrated cerebral function of the normal brain. The study of agenesis of the corpus callosum (ACC) develops insights into neurodevelopmental delays and autism in children. Materials and Methods: This is a case series of eight children with ACC confirmed by a neuroimaging in a teaching hospital. The clinico-neuroradiological profile of ACC were studied retrospectively and reviewed clinical correlation with neuroradioimaging in the light of neuropathophysiology knowledge. Results: The study group was appeared as nonsyndromic. Every subject had a normal chromosomal study by karyotyping. These ACC patients neither had a specific recognizable syndrome nor the constellation of malformations are indicative of a disorder. Results: The mean age of subjects was 21.3 months, and no predilection for gender. The global developmental delay was the most common presentation found in seven ACC (87.5%) children. The second commonest, four ACC (50%) patients, was seizure. Two ACC (25%) had colpocephaly. Five ACC children (62.5%) had somatic anomalies; four ACC (50%) patients had cardiac defects. Conclusions: ACC children present a poor neurodevelopmental outcome. The extracallosal brain anomaly determines a worse neurological prognosis in nonsyndromic ACC. Grey matter heterotopia in neuroimaging was associated with seizure in ACC children. However, colpocephaly along with ACC may present with normal neurodevelopment. Hence, ACC in neuroimaging may have not predicted the final neurological outcome. ACC children with normal karyotyping may have somatic malformations. Moreover, echocardiography can be considered an initial routine screening in nonsyndromic ACC children. Keywords: Agenesis of Corpus callosum, Colpocephaly, Neuroradiology, Neurodevelopmental delay, Seizures
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. Abbreviations: ACC = agenesis of the corpus callosum; MCPH = autosomal recessive primary microcephaly
Neurodevelopmental Outcome of Patients With Agenesis of Corpus Callosum
Negah Institute for Social Research & Scientific Communication, 2021
Background: Agenesis of Corpus Callosum (ACC) is a type of brain dysgenesis with various clinical manifestations. Objectives: This study aimed to investigate the clinical and neurodevelopmental outcomes of patients with ACC. Materials & Methods: In this cross-sectional study, the clinical and neurodevelopmental conditions of 62 patients with complete ACC referred to subspecialty clinics of pediatric neurology, Isfahan University of Medical Sciences, Isfahan, Iran, were investigated. Quantitative data were shown as Mean±SD, and qualitative data as frequency or percentage. In addition, the f Chi-square test was used to compare some data in SPSS version 22. Results: In this study, 62 patients, including 29 boys and 33 girls with a Mean±SD age of 4.99±5.07 years, were included. Among the patients examined, 54.4% were born of consanguineous marriage, 82% had developmental delays, 80.4% had mental retardation, 89.1% had a speech delay, 23.7% had nutritional problems, 42.4% had facial dysmorphic features, and 27.6% had abnormalities of muscle tone. Among the associated problems stated by the patients, 15.5% of them had heart diseases, 22.4% visual disorders, 5.2% hearing deficit, 25.8% behavioral problems, 50% seizures, and 53.3% had abnormal electroencephalogram. Interestingly, 12.9% of the patients had normal or near-normal development. Conclusion: The prevalence of developmental delays, speech and language disorders, mental retardation, facial deformities, seizures, and abnormal muscle tone were common in the patients with ACC.
Corpus callosum abnormalities: neuroradiological and clinical correlations
Developmental medicine and child neurology, 2015
To study neuroradiological features in pediatric patients with corpus callosum abnormalities, using new functional subtyping for the corpus callosum, and to correlate the features with the clinical presentation. We performed a retrospective review of 125 patients with radiologically identified abnormalities of the corpus callosum seen between1999 and 2012. The study reviewed clinical features, genetic etiology, and chromosomal microarray (CMA) results. We used a new functional classification for callosal abnormalities based on embryological and anatomical correlations with four classes: complete agenesis, anterior agenesis (rostrum, genu, body), posterior agenesis (isthmus, splenium), and complete hypoplasia (thinning). We also studied the presence of extracallosal abnormalities. The new functional callosal subtyping did not reveal significant differences between the various subtypes in association with neurological outcome; however, the presence of cardiac disease was found more fr...
Agenesis of the Corpus Callosum: An MR Imaging Analysis of Associated Abnormalities in the Fetus
American Journal of Neuroradiology, 2008
BACKGROUND AND PURPOSE: Anomalies associated with callosal agenesis (ACC) found postnatally have been well documented. However, to our knowledge, no detailed MR imaging analysis of associated anomalies has been reported in a large cohort of fetuses with ACC. This study will assess those anomalies and compare them with postnatal cohorts of ACC, to identify associated fetal brain abnormalities that may give insight into etiology and outcome.
Archives of Neurology, 2008
Background: Malformations of cortical development (MCDs) are a major source of handicap. Much progress in understanding the genetic causes has been made recently. The number of affected children in whom a molecularly confirmed diagnosis can be made is unclear. Objective: To evaluate the etiology of MCDs in children and the effect of a combined radiological, clinical, and syndrome classification.