[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.

journal_name

Arq Neuropsiquiatr

authors

Torres LF,De Noronha L,Jacob GV,Antoniuk S

doi

10.1590/s0004-282x1997000100018

subject

Has Abstract

pub_date

1997-03-01 00:00:00

pages

114-21

issue

1

eissn

0004-282X

issn

1678-4227

journal_volume

55

pub_type

杂志文章
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    更新日期:1992-06-01 00:00:00

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    更新日期:1989-12-01 00:00:00

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