Linked Life Data

2974530

Source:http://linkedlifedata.com/resource/pubmed/id/2974530

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1989-2-9
pubmed:abstractText
A fatal case of multiple sulfatase deficiency in a 10-year-old girl is reported. In this rare disease, which is inherited as an autosomal recessive, features of metachromatic leukodystrophy and of mucopolysaccharidoses occur together. The white matter suffers progressive destruction with sulfatides accumulating in macrophages; these stain metachromatically as golden brown granules with acetic acid thionin stain. Cortical and subcortical neurons are distended by lipids and mucopolysaccharides, and fibrous thickening of the leptomeninges leads to severe obstructive hydrocephalus. This entity can be regarded as a bridge between leukodystrophies and neuronal storage diseases both conceptually and in its morphological manifestations.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0031-3025
pubmed:author
pubmed:issnType
Print
pubmed:volume
20
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
285-91
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1988
pubmed:articleTitle
Multiple sulfatase deficiency: bridge between neuronal storage diseases and leukodystrophies.
pubmed:affiliation
Department of Pathology and Oncology, University of Kansas College of Health Sciences and Hospital, Kansas City.
pubmed:publicationType
Journal Article, Case Reports