Minicore형 선천성 근병증 1례

A Case of Minicore Myopathy

본 증례와 같은 선청성 근병증은 국내 문헌에 보고 된 사례가 극히 적고 그 예후나 구체적인 치료에 대해서도 알려진 바가 드문 질환이다. 이에 저자들은 조직화학적 소견으로 확진된 minicore 형의 선천성 근병증 2례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

Minicore myopathy, an uncommon condition, is one of congenital myopathies. It is characterized by multifocal areas of degeneration in muscle fibers. The minicores consist of numerous small areas of decreased oxidative enzyme activity. The axis of the lesion is perpendicular or parallel to the long axis of the muscle fiber. The phenotype has been described as predominantly proximal, static or only slowly progressive muscle weakness. We report a 4 year-old-girl with respiratory failure, thoracic scoliosis, hypotonia and facial weakness, who was diagnosed as minicore myopathy by muscle biopsy. The laboratory investigations, such as creatine phosphokinase and lactiv dehydrogenase levels, and the nerve conduction velocity were normal. The muscle biopsy showed marked size variations of myofibers, marked endomyseal and perimyseal fibrosis, and moderate fatty changes in myofibers. The histochemical studies showed multiple focal losses of mitochondria. These findings are consistent with minicore type congenital myopathy.