Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome

Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome

Abstract Pyruvate dehydrogenase complex (PDHC) deficiency is a mitochondrial disorder. We report two cases of PDHC deficiency with clinical symptoms and brain imaging findings reminiscent of FOXG1 syndrome, suggesting a phenotypic overlap of these disorders.

Bibliographic Details
Main Authors: Yuichi Akaba, Satoru Takahashi, Ryo Takeguchi, Ryosuke Tanaka, Shin Nabatame, Hirotomo Saitsu, Naomichi Matsumoto
Format: Article
Language:English
Published: Wiley 2021-03-01
Series:Clinical Case Reports
Subjects:
FOXG1 syndrome
MRI
PDHC deficiency
phenotype
Online Access:https://doi.org/10.1002/ccr3.3883

Internet

https://doi.org/10.1002/ccr3.3883

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