[Connections between respiratory regulation and paradoxical sleep in a patient with Joubert's syndrome (author's transl)].
This study reports on eight patients whose cases have been described in literature, and two patients treated by the author, showing the typical signs of Joubert's syndrome. This disease pattern is characterised by episodic hyperpnoeas and apnoeas, retardation, muscular hypotension, opsoclonia, complete or partial agenesis of the vermiform process of cerebellum, as well as a dilated fourth ventricle. The clinical symptoms are compared with the characteristic signs of REM sleep and of cataplexy.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002385:Cataplexy; D002531:Cerebellum / Q000002:abnormalities; D002552:Cerebral Ventricles / Q000002:abnormalities; D004569:Electroencephalography; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009123:Muscle Hypotonia / Q000150:complications; D012119:Respiration; D012120:Respiration Disorders / Q000150:complications; D012895:Sleep, REM
Zusammenhängè zwischen Atemregulation und paradoxem Schlaf bei einem Patienten mit Joubert-Syndrom.