Linked Life Data

2369271

Source:http://linkedlifedata.com/resource/pubmed/id/2369271

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1990-8-13
pubmed:abstractText
An unusual case of Niemann-Pick disease type C is reported. The disease was first manifested in utero with hepatomegaly and ascitis. At the age of 3 months, respiratory signs were noted due to diffuse alveolar and interstitial pneumonia. Both bronchoalveolar lavage and blood serologic studies revealed respiratory infection by respiratory syncitial virus and Chlamydia trachomatis. These concomitant infections delayed the diagnosis of Niemann-Pick disease which was finally made by the electronic microscopic studies of liver biopsy and bone marrow specimens. Type C was identified by biochemical characterization of lipid accumulation in hepatocytes and by lipid enzyme profiles obtained from cutaneous fibroblast cultures. The child died at the age of 6 months from respiratory failure. Post mortem examination of the lung showed the presence of numerous overloaded alveolar macrophages in the alveolar spaces and walls. The severity of the lung issue disease is unusual in type C Niemann-Pick disease, in which neurologic involvement is usually the main prognosis factor.
pubmed:language
fre
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0003-9764
pubmed:author
pubmed:issnType
Print
pubmed:volume
47
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
373-5
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1990
pubmed:articleTitle
[A fatal respiratory form of type C Niemann-Pick disease].
pubmed:affiliation
Services de Médecine infantile, CHU Albert-Michallon, Grenoble.
pubmed:publicationType
Journal Article, English Abstract, Case Reports, Research Support, Non-U.S. Gov't