A Familial Case of Choreoacanthocytosis.
- Author:
Byoung Soo SHIN
1
;
Dae Won SONG
;
Sang Hyo LEE
;
Man Wook SEO
;
Young Hyun KIM
Author Information
1. Department of Neurology, Chonbuk National University Medical School.
- Publication Type:Case Report
- Keywords:
Choreoacanthocytosis
- MeSH:
Abetalipoproteinemia;
Acanthocytes;
Adult;
Atrophy;
Brain;
Chin;
Chorea;
Diagnosis;
Erythrocytes;
Female;
Humans;
Lower Extremity;
Memory;
Motor Neurons;
Neuroacanthocytosis*;
Reflex, Stretch;
Schizophrenia;
Seizures;
Siblings;
Tomography, X-Ray Computed
- From:Journal of the Korean Neurological Association
1996;14(4):1000-1006
- CountryRepublic of Korea
- Language:Korean
-
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.
