[Leigh syndrome due to pyruvate dehydrogenase E1 alpha subunit gene mutation: a complicated and difficult case study].

Abstract

Leigh syndrome is a genetically heterogeneous disease caused by defects in enzymes involved in aerobic energy metabolism and the Krebs' cycle. Deficiency of pyruvate dehydrogenase complex E1 alpha subunit (PDHA1) is the common cause of Leigh syndrome. In this study, one Chinese case of PDHA1 deficiency was reported. The patient was a boy with normal mental development, retarded motor development, general weakness, hypotonia and areflexia. Muscle histopathological findings suggested axonal peripheral neuropathy. Brain magnetic resonance imaging at 5 years of age revealed bilateral putamina lesions and periventricular white matter demyelination, supporting the diagnosis of Leigh syndrome. A C214T mutation in exon 3 of the PDHA1 gene was detected. After the treatment of thiamin, coenzyme Q10, Lcarnitine and carbohydrates-restricted diet, his movement ability improved significantly. At present, the patient is 8 years old and has normal school life. PDHA1 deficiency is an X-linked inherited metabolic disease, which shares various clinical manifestations and leads to difficult diagnosis. This patient predominately presented with progressive weakness and was diagnosed by gene analysis.

• Authors: Yao Zhang, Fang Sun, Yan-Ling Yang, Xing-Zhi Chang, Yu Qi, Zhao-Yue Qi, Jiang-Xi Xiao, Jiong Qin, Xi-Ru Wu
• Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics (Zhongguo Dang Dai Er Ke Za Zhi) Vol. 9 Issue 3 Pg. 216-9 (Jun 2007) ISSN: 1008-8830 [Print] China
• PMID: 17582259 (Publication Type: Case Reports, English Abstract, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Pyruvate Dehydrogenase (Lipoamide)
• pyruvate dehydrogenase E1alpha subunit

Topics

• Child, Preschool
• Diagnosis, Differential
• Humans
• Leigh Disease (diagnosis, genetics, therapy)
• Male
• Mutation
• Pyruvate Dehydrogenase (Lipoamide) (genetics)