[Leigh syndrome due to pyruvate dehydrogenase E1 alpha subunit gene mutation: a complicated and difficult case study].
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.
Zhang
Yao
Y
Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
Sun
Fang
F
Yang
Yan-Ling
YL
Chang
Xing-Zhi
XZ
Qi
Yu
Y
Qi
Zhao-Yue
ZY
Xiao
Jiang-Xi
JX
Qin
Jiong
J
Wu
Xi-Ru
XR
D002675:Child, Preschool; D003937:Diagnosis, Differential; D006801:Humans; D007888:Leigh Disease / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D008297:Male; D009154:Mutation; D030481:Pyruvate Dehydrogenase (Lipoamide) / Q000235:genetics*
D030481:Pyruvate Dehydrogenase (Lipoamide); C065640:pyruvate dehydrogenase E1alpha subunit