We have experienced a family case of 3 sisters in whom the proband showed a complete form of the choreo-acanthosytosis. A 39-year-old female proband was admitted because of frequent seizures, She was alert, well-oriented, and had no gross memory
defects. She had slurred speeech, choreic movements of chin. Deep tendon reflexes on the both lower extremeties 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.
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