A case of congenital non-progressive cerebellar ataxia with pigmentary retinal degeneration, fiber type disproportion and hypercreatine kinasemia

Takao Yamasaki, Takayuki Taniwaki, Hitoshi Kikuchi, Eiichi Araki, Kenji Arakawa, Toru Iwaki, Takeshi Yamada, Jun-Ichi Kira

Research output: Contribution to journalArticle

Abstract

We report a 20-year-old female who presented with congenital non- progressive cerebellar ataxia, pigmentary retinal degeneration, fiber type disproportion, hypercreatine kinasemia and mental retardation. No family history of neuromuscular disorders was found. There was consanguinity between the grandfather and grandmother. Pregnancy and delivery were uneventful. Although neck control was obtained at three months old, she could walk at 23 months old. She had a tendency to tumble. Her mentality was retarded. At 12- years-old, she was diagnosed as having pigmentary retinal degeneration. When she visited to our hospital at 20-year-old, she had slight scoliosis. Neurological examination disclosed mental retardation, pigmentary retinal degeneration, gaze evoked nystagmus on horizontal gaze and proximal dominant muscle weakness. Tandem gait was unsteady. Deep tendon reflexes were slightly hyperactive in all four extremities. The serum creatine kinase was elevated to 2346U/l. Muscle biopsy revealed type I. fiber atrophy and predominance. This case is therefore considered to be cogenital non-progressive cerebellar ataxia presenting with fiber type disproportion, pigmentary retinal degeneration and hypercreatine kinasemia.

Original languageEnglish
Pages (from-to)925-929
Number of pages5
JournalClinical Neurology
Volume39
Issue number9
Publication statusPublished - Sep 1 1999

All Science Journal Classification (ASJC) codes

  • Clinical Neurology

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    Yamasaki, T., Taniwaki, T., Kikuchi, H., Araki, E., Arakawa, K., Iwaki, T., Yamada, T., & Kira, J-I. (1999). A case of congenital non-progressive cerebellar ataxia with pigmentary retinal degeneration, fiber type disproportion and hypercreatine kinasemia. Clinical Neurology, 39(9), 925-929.