Schwartz-Jampel综合征临床特点分析(附首组国人家族同胞病例报告并文献复习)

Clinical findings and treatment of Schwartz-Jampel Syndrome:the first reported siblings in China with literature review

目的分析探讨Schwartz-Jampe综合征(Schwartz-Jampel Syndrome,SJS)的临床表现、实验室所见、病因、诊断及治疗。方法收集国内首次报道的2组家族同胞SJS患者,进行实验室、影像、肌电图及肌肉活检,对该病的临床资料进行分析。结果 2例患者均为幼儿起病,进行性四肢力弱、步态异常,特殊面容、肌肉强直,骨骼畸形,关节挛缩;实验室检查血清肌酶轻度增高,影像学提示双肘关节、双髋关节畸形,扁平椎体、脊柱侧凸畸形。肌电图为大量肌强直电位。肌肉病理为慢性肌源性及神经源性损害。结论 SJS为常染色体隐性遗传病,与基底膜蛋白多糖(Perlecan)有关,其临床表现各异,主要临床特点为特殊面容、肌强直及骨骼畸形,卡马西平治疗有效。

Objective To study Schwartz-Jampel Syndrome （SJS） in clinical manifestation,laboratory findings,etiology,diagnosis and treatment.Method To analyse clinical findings,imaging,electromyography and muscular biopsy of the first reported siblings of SJS in China.Result The onset of SJS is in childhood with weakness,gait abnormality,facial dysmorphism,myotonia,skeletal abnormalities and joint contracture.Our patients have mild increased creatase,severe deformity of elbows and hips,platyspondyly and scoliolosis with generous myotonia potential in electromyography.Muscle biopsy exhibits both myopathic and neuropathic changes.Conclusion SJS is a rare autosomal recessive inheritance disease and relatived to perlecan.Clinical manifestation of SJS is diversity and characterized by typical facies,generalized myotonia and skeletal abnormalities.Carbamazepine is effective for treatment.