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Published in: Child's Nervous System 3/2018

01-03-2018 | Case Report

Group 3 medulloblastoma in a patient with a GYS2 germline mutation and glycogen storage disease 0a

Authors: Till Holsten, Konstantinos Tsiakas, Uwe Kordes, Brigitte Bison, Torsten Pietsch, Stefan Rutkowski, René Santer, Ulrich Schüller

Published in: Child's Nervous System | Issue 3/2018

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Abstract

Glycogen storage disease (GSD) 0a is a rare congenital metabolic disease with symptoms in infancy and childhood caused by biallelic GYS2 germline variants. A predisposition to cancer has not been described yet. We report here a boy with GSD 0a, who developed a malignant brain tumor at the age of 4.5 years. The tumor was classified as a group 3 medulloblastoma, and the patient died from cancer 27 months after initial tumor diagnosis. This case appears interesting as group 3 medulloblastoma is so far not known to arise in hereditary syndromes and the biology of sporadic group 3 medulloblastoma is largely unknown.
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Metadata
Title
Group 3 medulloblastoma in a patient with a GYS2 germline mutation and glycogen storage disease 0a
Authors
Till Holsten
Konstantinos Tsiakas
Uwe Kordes
Brigitte Bison
Torsten Pietsch
Stefan Rutkowski
René Santer
Ulrich Schüller
Publication date
01-03-2018
Publisher
Springer Berlin Heidelberg
Published in
Child's Nervous System / Issue 3/2018
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI
https://doi.org/10.1007/s00381-017-3666-9

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