A Familial Case of Choreoacanthocytosis

J Korean Neurol Assoc > Volume 14(4); 1996 > Article

Journal of the Korean Neurological Association 1996;14(4): 1000-1006.

무도병성 유극적혈구증가증 : 가족성 1례

신, 송대원 이상효 서만욱 김영현

전북대학교 의과대학 신경과학교실

A Familial Case of Choreoacanthocytosis

Byoung Soo Shin, M. D., Dae Won Song, M. D., Sang Hyo Lee, M. D., Man Wook S대, M. D., Young Hyun Kim, M. D.

Department of Neurology, Chonbuk National University Medical School

Abstract

We have experienced a family case of 3 sisters in whom the proband showed a complete form of the choreo-acanthosytosis. 439-year-old female proband was admitted because of frequent seizures. She was alert, well-oriented, and had no gross memory defects. She had slurred speech, choreic movements of chin. Deep tendon reflexes on the both lower extremities were decreased. Laboratory examination showed acanthocytes in her peripheral red blood cells, normal serum lipid values, increased creatine-phosphokinase levels and bilateral caudate atrophy on her brain CT scan. Electrophysiological data were consistent with lower motor neuron dysfunction. Another 33-year-old sister with frequent seizures and psychic problems also showed acanthocytosis. The other 36-year-old sister has been treated under the diagnosis of schizophrenia for 10 years, not showing acanthocytosis. Key Words : Choreoacanthocytosis