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.
journal_name
Neuropediatricsjournal_title
Neuropediatricsauthors
Hecher L,Johannsen J,Bierhals T,Buhk JH,Hempel M,Denecke Jdoi
10.1055/s-0040-1710588subject
Has Abstractpub_date
2020-12-01 00:00:00pages
435-439issue
6eissn
0174-304Xissn
1439-1899journal_volume
51pub_type
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