title: [Anatomo-pathological and ultrastructural features of mucopolysaccharidosis. Case report].
abstract: The mucopolysaccharidoses (MPS) are lysosomal storage diseases in which a specific enzyme defect causes glycosaminoglycans storage in tissues. The authors present a necropsy case of a 10 years old boy with clinical and laboratorial diagnosis of MPS. The necropsy revealed thickening of meninges, cardiac valves and hepatomegaly. The microscopical examination of the brain showed finely vacuolated histiocytes around blood vessels and meninges. Systemic deposits of vacuolated histiocytes in cardiac valves and liver were also detected. The ultrastructural examination of the brain, liver and spleen showed filamentous material accumulated in vacuolated histiocytes and hepatocytes and features neuronal storage disease.
authors.affiliation: Serviço de Anatomia Patológica, Hospital de Clínicas (HC), Universidade Federal do Paraná (UFPr), Curitiba PR, Brasil.
authors.forename: L F
authors.initials: LF
authors.lastname: Torres
authors.forename: L
authors.initials: L
authors.lastname: De Noronha
authors.forename: G V
authors.initials: GV
authors.lastname: Jacob
authors.forename: S
authors.initials: S
authors.lastname: Antoniuk
mesh_terms: D001921:Brain / Q000648:ultrastructure; D002648:Child; D006351:Heart Valves / Q000648:ultrastructure; D006801:Humans; D008099:Liver / Q000648:ultrastructure; D008297:Male; D008578:Meninges / Q000648:ultrastructure; D008854:Microscopy, Electron; D009083:Mucopolysaccharidoses / Q000473:pathology*