척수성 근위축증 증상을 보인 사립체 호흡연쇄효소 복합체 I 결핍에 의한 뇌근병증

• 영문명: Mitochondrial Respiratory Complex I Deficiency Simulating Spinal Muscular Atrophy
• 발행기관: 대한소아신경학회
• 저자명: 이지숙(Ji Sook Lee) 안미선(Mi Sun Ahn) 유경화(Kyung Hwa Ryu) 황진순(Jin Soon Hwang) 정조원(Jo Won Jung) 김성환(Sung Hwan Kim)
• 간행물 정보: 『Annals of Child Neurology(구 대한소아신경학회지)』대한소아신경학회지 제14권 제2호, 316~321쪽, 전체 6쪽
• 주제분류: 의약학 > 의학일반
• 파일형태: PDF
• 발행일자: 2006.11.30

국문 초록

저자들은 척수성 근위축증 증상이 사립체 호흡연쇄효소 복합체 I 단독 결핍증의 새로운 임상표현형으로 나타날 수 있음을 세계에서 처음 보고하면서, 임상양상이 척수성 근위축증과 유사하나 SMN 유전자의 결손이 없거나 추적관찰 중 비전형적인 임상증상이 나타나는 경우 반드시 사립체 호흡연쇄효소 복합체의 효소 활성도 검사를 시행하여 사립체질환의 가능성을 고려할 것을 보고하는 바이다.

영문 초록

Two female patients with clinical features resembling spinal muscular atrophy are introduced. Patient 1 presented with hypotonia and proximal weakness of extremities at the age of 4 months. The electromyography revealed motor neuronopathy suggestive of spinal muscular atrophy. Patient 2 presented with severe hypotonia, motor weakness, and joint contractures since birth. The muscle biopsy finding was consistent with spinal muscular atrophy. However, deletions in the survival motor neuron genes and the neuronal apoptosis inhibitor protein genes were not found in both the patients. They finally showed the clinical features against spinal muscular atrophy; epileptic seizures, cardiomyopathy, and spasticity. We measured the mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts, whose results were suggestive of isolated complex I deficiency in both the patients. In conclusion, for the patients who have clinical features resembling SMA without any deletions in the SMA genes it should be considered a possibility of the mitochondrial respiratory chain complex I deficiency.

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키워드

Mitochondrial respiratory chain complex deficiency Spinal muscular atrophy