Neuropediatrics 2020; 51(06): 435-439
DOI: 10.1055/s-0040-1710588
Short Communication

The Clinical Picture of a Bilateral Perisylvian Syndrome as the Initial Symptom of Mega-Corpus-Callosum Syndrome due to a MAST1-Gene Mutation

Laura Hecher
1  Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
,
Jessika Johannsen
1  Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
,
Tatjana Bierhals
2  Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
,
Jan-Hendrik Buhk
3  Department of Neuroradiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
,
Maja Hempel
2  Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
,
Jonas Denecke
1  Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
› Author Affiliations

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.

Patient Consent

Written informed consent for patient information and MR images to be published was provided by the patients.




Publication History

Received: 29 November 2019

Accepted: 15 April 2020

Publication Date:
20 August 2020 (online)

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