Charcot-Marie-Tooth disease: a case presenting with hyperreflexia.

C. C. Shieh, P. J. Wang, H. J. Lin, M. Y. Lin, H. C. Hsieh, Y. Z. Shen

研究成果: Article同行評審


We report a 10-year-old girl with progressive weakness of lower extremities, feet deformity, and sensory impairment on both feet for 3 years. Absent ankle tendon reflex, exaggerated knee jerk and prolonged nerve conduction velocity were noted by physical and electrophysiological examination. Nerve and muscle biopsy showed demyelination and neurogenic changes respectively and supported the diagnosis of Charcot-Marie-Tooth disease, type I. The point that the diagnosis of Charcot-Marie-Tooth disease remains possible even in the absence of family history and the typical clinical picture is stressed. Complete electrophysiological study and tissue diagnosis are required for early diagnosis, early rehabilitation and reconstructive surgery.

頁(從 - 到)116-121
期刊Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui
出版狀態Published - 1990 一月 1

All Science Journal Classification (ASJC) codes

  • 兒科、圍產兒和兒童健康


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