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Mega-corpus-callosum syndrome with cortical malformations.
Pediatr Radiol
November 2024
Alfred I. duPont Hospital for Children, Wilmington, USA.
A genetic variant in the MAST1 gene is associated with mega-corpus-callosum syndrome with hypoplastic cerebellar vermis, in a fetus.
Mol Genet Genomic Med
January 2024
Genetic and Metabolic Central Laboratory, Guangxi Birth Defects Research and Prevention Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Article Synopsis
- Mega-corpus-callosum syndrome is a rare neurological disorder characterized by brain malformations, caused by mutations in the MAST1 gene, essential for neuron development.
- A 26-year-old woman was referred for prenatal assessment after ultrasound showed significant brain abnormalities in her fetus, including enlarged ventricles and underdeveloped cerebellum.
- Whole-exome sequencing revealed a specific mutation in the MAST1 gene, marking the first reported prenatal case of this disorder in the Chinese population and contributing to better understanding of the gene's mutation spectrum.
MAST1-related mega-corpus-callosum syndrome with central hypogonadism.
Eur J Med Genet
November 2023
Service de Génétique Clinique, Centre Hospitalier Régional Universitaire, Nancy, F-54000, France; Centre de Référence des Epilepsies Rares (CRéER) Centre Hospitalier Régional Universitaire, Nancy, F-54000, France; INSERM UMRS 1256 NGERE, Nutrition, Genetics, and Environmental Risk Exposure, National Center of Hospitalier Régional Universitaire, Nancy, France.
Objective: Heterozygous variations in microtubule-associated serine/threonine kinase 1 gene (MAST1) were recently described in the mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM, MIM 618273), revealing the importance of the MAST genes family in global brain development. To date, patients with MAST1 gene mutations were mostly young children with central nervous system involvement, impaired motor function, speech delay, and brain magnetic resonance imaging (MRI) abnormalities. Here, we report the clinical presentation of an adult patient with a rare and de novo MAST1 mutation with central hypogonadism that could extend this phenotype.
View Article and Find Full Text PDFSyndrome of megalencephaly, mega corpus callosum, and complete lack of motor development: an unusual case and a literature review.
Childs Nerv Syst
January 2024
Department of Pediatric Neurology, Faculty of Medicine, Ondokuz Mayıs University, Samsun, Turkey.
The syndrome of megalencephaly, mega corpus callosum (MEG-MegaCC) accompanied by complete lack of motor development is a rare condition with only few sporadic cases having been reported in the literature. In this paper, we describe a child from non-consanguineous parents presenting with MegaCC, psychomotor retardation, and language impairment linked to MEG-MegaCC syndrome. Genetic analysis, radiological findings, and detailed neurological phenotype of MEG-MegaCC syndrome with its overlapping syndromes would allow for a better classification of the disease spectrum.
View Article and Find Full Text PDFThe Clinical Picture of a Bilateral Perisylvian Syndrome as the Initial Symptom of Mega-Corpus-Callosum Syndrome due to a MAST1-Gene Mutation.
Neuropediatrics
December 2020
Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Congenital bilateral perisylvian syndrome (CBPS) is a rare neurological disorder associated with typical clinical and imaging features such as bilateral symmetrical polymicrogyria, either exclusively or mainly affecting the perisylvian region of the brain. We present a girl with the typical clinical picture of a CBPS and a complex migration disorder, predominantly presenting as bilateral symmetrical polymicrogyria associated with corpus callosum hyperplasia, ventricular dilation, and pontine hypoplasia. At the age of 6 months, the girl showed a profound global developmental delay, seizures refractory to treatment, and severe oromotor dysfunction.
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