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丙酮酸脱氢酶复合物缺乏症与FOXG1综合征之间的表型重叠。

Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome.

作者信息

Akaba Yuichi, Takahashi Satoru, Takeguchi Ryo, Tanaka Ryosuke, Nabatame Shin, Saitsu Hirotomo, Matsumoto Naomichi

机构信息

Department of Pediatrics Asahikawa Medical University Asahikawa Japan.

Department of Pediatrics Graduate School of Medicine Osaka University Osaka Japan.

出版信息

Clin Case Rep. 2021 Feb 6;9(3):1711-1715. doi: 10.1002/ccr3.3883. eCollection 2021 Mar.

DOI:10.1002/ccr3.3883
PMID:33768920
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7981633/
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.

摘要

丙酮酸脱氢酶复合体（PDHC）缺乏症是一种线粒体疾病。我们报告了两例PDHC缺乏症病例，其临床症状和脑成像结果让人联想到FOXG1综合征，提示这些疾病存在表型重叠。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/66dc/7981633/e5b5c83e84b0/CCR3-9-1711-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/66dc/7981633/da4d52001be7/CCR3-9-1711-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/66dc/7981633/e5b5c83e84b0/CCR3-9-1711-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/66dc/7981633/da4d52001be7/CCR3-9-1711-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/66dc/7981633/e5b5c83e84b0/CCR3-9-1711-g003.jpg

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本文引用的文献

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Early-onset movement disorder as diagnostic marker in genetic syndromes: Three cases of FOXG1-related syndrome.早发型运动障碍作为遗传综合征的诊断标志物：FOXG1 相关综合征三例。
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