Familial encephalopathy with permanent periodic breathing: 4 cases in 2 unrelated families.
Brain Dev
; 10(2): 110-9, 1988.
Article
en En
| MEDLINE
| ID: mdl-3389473
In each of 2 unrelated Algerian families, we observed 2 sisters with a severe static encephalopathy which was detected in the first weeks of life. Anoxia at birth occurred in only one case. This previously unreported familial encephalopathy is characterized by severe mental retardation, hypotrophy, abnormal movements with unprovoked startles, major EEG abnormalities with undifferentiated sleep stages and a very particular periodic breathing pattern that persists during waking and sleep. EEG, polygraphic and video recordings were obtained for all patients. The evolution is chronic and stable. There are no major dysmorphic features. No metabolic or anatomic abnormality was found. Gynecotropy is uncertain and the transmission is likely to be recessive.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Trastornos Respiratorios
/
Encefalopatías
Tipo de estudio:
Etiology_studies
Límite:
Child
/
Child, preschool
/
Female
/
Humans
Idioma:
En
Revista:
Brain Dev
Año:
1988
Tipo del documento:
Article
País de afiliación:
Francia
Pais de publicación:
Países Bajos