[Report of a case of type C Niemann-Pick syndrome with atypical course].
We report a case of one boy with Niemann-Pick disease (type C). The manifestations are delayed but the clinical evolution is swift.
Ughi
M
M
Divisione Pediatrica, Ospedale Civile di Legnago, VR, Italia.
Visco
G
G
Trevenzoli
G
G
Lanzone
B
B
D000293:Adolescent; D000927:Anticonvulsants / Q000627:therapeutic use; D001996:Bronchopneumonia / Q000209:etiology; D003680:Deglutition Disorders / Q000209:etiology; D004750:Enteral Nutrition / Q000379:methods; D006801:Humans; D007441:Intubation, Gastrointestinal; D008297:Male; D019957:Motor Skills Disorders / Q000209:etiology; D009542:Niemann-Pick Diseases / Q000175:diagnosis / Q000503:physiopathology* / Q000628:therapy; D012640:Seizures / Q000628:therapy; D013577:Syndrome
D000927:Anticonvulsants
Descrizione di un caso di sindrome di Niemann-Pick di tipo C ad andamento atipico.