title: [Report of a case of type C Niemann-Pick syndrome with atypical course].
abstract: We report a case of one boy with Niemann-Pick disease (type C). The manifestations are delayed but the clinical evolution is swift.
authors.affiliation: Divisione Pediatrica, Ospedale Civile di Legnago, VR, Italia.
authors.forename: M
authors.initials: M
authors.lastname: Ughi
authors.forename: G
authors.initials: G
authors.lastname: Visco
authors.forename: G
authors.initials: G
authors.lastname: Trevenzoli
authors.forename: B
authors.initials: B
authors.lastname: Lanzone
mesh_terms: 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
chemical_list: D000927:Anticonvulsants
vernacular_title: Descrizione di un caso di sindrome di Niemann-Pick di tipo C ad andamento atipico.