Takahashi M, Nakamura M, Yamaoka Y, Nakano S, Akiguchi I
Department of Neurology, Kyoto Katsura Hospital.
Rinsho Shinkeigaku. 1995 Feb;35(2):204-7.
A 28-year-old male with a rigid spine syndrome who had congenital cardiac abnormality of sinus venosus defect was described. The patient was admitted to our hospital because of easy fatigability and palpitation. At the age of 4 years, he had an operation for his congenital cardiac abnormality and developed persistent atrial fibrillation thereafter. On neurological examination, he had average mentality, rigid spine with joint contractures, especially in the left elbow joint, and winged scapulae. He had marked muscle weakness and atrophy, predominantly in the left half of the extremities and trunk. Electromyographic studies demonstrated myopathic with partial neurogenic changes. Motor and sensory nerve conduction velocity was normal. A muscle biopsy specimen obtained from the right rectus femoris showed some marked hypertrophic and atrophic muscle fibers, with prominent internal nuclei, fiber splitting and pyknotic nuclear clump. ATP-ase stain showed type 2B fiber deficiency, increased number of type 2C fibers and fiber type grouping.
报道了一名28岁患有僵硬脊柱综合征且伴有先天性静脉窦缺损型心脏异常的男性患者。该患者因易疲劳和心悸入住我院。4岁时，他因先天性心脏异常接受了手术，此后发展为持续性心房颤动。神经系统检查显示，他智力正常，脊柱僵硬伴有关节挛缩，尤其是左肘关节，并有翼状肩胛。他有明显的肌肉无力和萎缩，主要集中在四肢和躯干的左侧。肌电图研究显示为肌病伴部分神经源性改变。运动和感觉神经传导速度正常。从右股直肌获取的肌肉活检标本显示，一些肌肉纤维明显肥大和萎缩，有突出的核内移、肌纤维分裂和核固缩团块。ATP酶染色显示2B型纤维缺乏，2C型纤维数量增加以及纤维类型群组化。
