A case of rigid spine syndrome with rimmed vacuolar myopathy

J Korean Neurol Assoc > Volume 16(3); 1998 > Article

Journal of the Korean Neurological Association 1998;16(3): 416-420.

Rimmed vacuole 근육병을 보이는 강직성 척추 증후군 1 예 보고

김용덕*, 조수진*, 선우일남*, 조태영**, 김태승***

연세대학교 의과대학 신경과학 교실* 광혜병원 신경과** 연세대학교 의과대학 병리학 교실***

A case of rigid spine syndrome with rimmed vacuolar myopathy

Yong Duk Kim, M.D.*, Soo Jin Cho, M.D.*, Il Nam Sunwoo, M.D.*, Tae Young Cho, M.D.**, Tai Seung Kim, M.D.***

Department of Neurology, Yonsei University College of Medicine* Department of Neurology, Kwang Hye Hospital** Department of Pathology, Yonsei University College of Medicine***

Abstract

Rigid spine syndrome (RSS) is a childhood onset muscle disorder characterized by: marked limitation of motility of cervical and lumbar spine with severe lordosis, contracture of limb joints, mild and nonprogressive proximal muscle weakness, moderately elevated muscle enzymes, myopathic electromyographic patterns, and histological features of nonspecific myopathies. Here we present a 14-year-old girl with distinctive clinical features of rigid spine syndrome. She developed slowly progressive difficulty on walking because of joint contracture and rigid spine with severe lordosis since 4 years of age. There was mild but generalized muscle weakness. The serum creatine kinase was increased up to 743 IU/ml and the EMG studies showed combined features of myopathy and neuropathy. The muscle biopsy of vastus lateralis revealed the typical findings of rimmed vacuolar myopathy with perivascular inflammatory cell infiltration, which were consistent with the inclusion body myositis.