Linked Life Data

2846943

Source:http://linkedlifedata.com/resource/pubmed/id/2846943

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1988-12-1
pubmed:abstractText
A 4 1/2 months old female baby was admitted to our hospital after an unexpected heart attack. Birth was in the 37th gestational week after an uneventful pregnancy and delivery by sectio, birth weight 1650 g, Apgar 9/10/10. In the following weeks the baby showed general muscle hypotonia, failure to thrive and sometimes an uncharacteristic heart murmur. Besides a chronic lactic acidemia we found a hypertrophic cardiomyopathy, cataract and small defects of the pigment epithelium of the retina. The CT-scan of the brain showed hypodense areas of both thalami and the mid-brain. Metabolic examination of two muscle specimens showed a deficiency of cytochrome-c-oxidase activity (I: 30, II: 20, normal: 73-284 mU/mg protein). So our patient may be the first case with an established defect in the respiratory chain suffering from cardiomyopathy, cataract and mitochondrial dysfunction. There is also a strong similarity to other encephalomyopathies especially to the Leigh-Syndrome.
pubmed:language
ger
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0300-8630
pubmed:author
pubmed:issnType
Print
pubmed:volume
200
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
381-7
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:articleTitle
[Encephalomyelopathy, cardiomyopathy, cataract and changes in the retinal pigment epithelium resulting from a cytochrome c oxidase deficiency].
pubmed:affiliation
Abteilung für pädiatrische Kardiologie, Universitätskinderklinik Tübingen.
pubmed:publicationType
Journal Article, Comparative Study, English Abstract, Review, Case Reports