A Familial Case of Choreoacanthocytosis
Journal of the Korean Neurological Association
;
: 1000-1006, 1996.
Article
Dans Coréen
| WPRIM
| ID: wpr-179484
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Abêtalipoprotéinémie
/
Réflexe d'étirement
/
Atrophie
/
Schizophrénie
/
Crises épileptiques
/
Encéphale
/
Tomodensitométrie
/
Chorée
/
Menton
/
Membre inférieur
Type d'étude:
Etude diagnostique
Limites du sujet:
Adulte
/
Femelle
/
Humains
langue:
Coréen
Texte intégral:
Journal of the Korean Neurological Association
Année:
1996
Type:
Article
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