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.
Keywords
MAST1 gene - congenital bilateral perisylvian syndrome - polymicrogyria - corpus callosum
hyperplasia - exome sequencing - microtubules
