Linked Life Data

8450897

Source:http://linkedlifedata.com/resource/pubmed/id/8450897

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1993-4-13
pubmed:abstractText
We describe the possible difficulties in getting the diagnosis "ataxia telangiectasia" using the example of a 16 years old girl. If cases of cerebellar ataxia in childhood present without classical symptoms, the diagnosis of ataxia telangiectasia should not be excluded before chromosome analysis. In our case, first signs of cerebellar ataxia were observed from the age of 11 years and we found only mild, atypical located and late onset telangiectasis. Other signs of the syndrome, such as elevated alpha-fetoproteine and deficiency of IgA or IgE could not be detected. Chromosome analysis, however, demonstrated a breakage syndrome with chromosome 14 to 7 translocation and established a firm diagnosis of ataxia telangiectasia. Patients with chromosome breakage syndromes including the Louis-Bar-syndrome have an increased risk for malignomas. Therefore chromosome analysis should be undertaken in cases of children with cerebellar ataxia, and frequent radiological examination avoided.
pubmed:language
ger
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0028-2804
pubmed:author
pubmed:issnType
Print
pubmed:volume
64
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
140-2
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1993
pubmed:articleTitle
[Clinico-genetic diagnosis of ataxia telangiectatica (Louis-Bar syndrome)].
pubmed:affiliation
Neurologische Klinik, Medizinische Fakultät (Charité), Humboldt-Universität, Berlin.
pubmed:publicationType
Journal Article, English Abstract, Case Reports