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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
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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

Patient Consent

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




Publikationsverlauf

Eingereicht: 29. November 2019

Angenommen: 15. April 2020

Artikel online veröffentlicht:
20. August 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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