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

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)116-121
Number of pages6
JournalZhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui
Issue number2
Publication statusPublished - 1990 Jan 1

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health


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