title: [A case of congenital non-progressive cerebellar ataxia with pigmentary retinal degeneration, fiber type disproportion and hypercreatine kinasemia].
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.
authors.affiliation: Department of Neurology, Faculty of Medicine, Kyushu University.
authors.forename: T
authors.initials: T
authors.lastname: Yamasaki
authors.forename: T
authors.initials: T
authors.lastname: Taniwaki
authors.forename: H
authors.initials: H
authors.lastname: Kikuchi
authors.forename: E
authors.initials: E
authors.lastname: Araki
authors.forename: K
authors.initials: K
authors.lastname: Arakawa
authors.forename: T
authors.initials: T
authors.lastname: Iwaki
authors.forename: T
authors.initials: T
authors.lastname: Yamada
authors.forename: J
authors.initials: J
authors.lastname: Kira
mesh_terms: D000328:Adult; D002524:Cerebellar Ataxia / Q000150:complications / Q000151:congenital* / Q000473:pathology; D003402:Creatine Kinase / Q000097:blood*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D018485:Muscle Fibers, Skeletal / Q000473:pathology*; D012162:Retinal Degeneration / Q000150:complications*
chemical_list: D003402:Creatine Kinase