title: [Niemann-Pick disease, type A: a case report].
abstract: Niemann-Pick disease (NPD) type A is a rapidly developing metabolic illness, with autosomal recessive mode of inheritance. A deficiency of the lysosomal enzyme--acid sphingomyelinase (ASM) produces the clinical phenotype with multiple organ involvement including the central nervous system. Type A NPD is characterized by failure to thrive, hepatosplenomegaly and rapidly progressive neurodegenerative course that leads to death by the age of 2-3 years. The authors report a 3-year-old boy with fatal course of the disease.
authors.affiliation: Klinika Pediatrii i Neurologii Wieku Rozwojowego, Slaska Akademia Medyczna w Katowicach, Katowice.
authors.forename: Ewa
authors.initials: E
authors.lastname: Jamroz
authors.forename: Justyna
authors.initials: J
authors.lastname: Paprocka
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Marszał
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Lugowska
authors.forename: Ewa
authors.initials: E
authors.lastname: Kluczewska
mesh_terms: D002675:Child, Preschool; D017809:Fatal Outcome; D005625:Frontal Lobe / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009542:Niemann-Pick Diseases / Q000175:diagnosis* / Q000235:genetics; D010296:Parietal Lobe / Q000473:pathology