In:
Neuropediatrics, Georg Thieme Verlag KG, Vol. 51, No. 06 ( 2020-12), p. 435-439
Abstract:
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. Exome analysis revealed a de novo mutation in microtubule-associated serine/threonine kinase 1 (MAST1). Recently, mutations in this gene were described in six patients with a cortical migration disorder named mega-corpus-callosum syndrome with cerebellar hypoplasia. Although all patients present the clinical and imaging features of CBPS, a clear assignment between CBPS and MAST1 mutations has not been reported yet.
Type of Medium:
Online Resource
ISSN:
0174-304X
,
1439-1899
DOI:
10.1055/s-0040-1710588
Language:
English
Publisher:
Georg Thieme Verlag KG
Publication Date:
2020
detail.hit.zdb_id:
2041654-4
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