Linked Life Data

1568849

Source:http://linkedlifedata.com/resource/pubmed/id/1568849

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1992-5-26
pubmed:abstractText
We describe four cases of the Wolfram syndrome; a rare congenital syndrome characterised in it's complete form by diabetes mellitus, diabetes insipidus, optic atrophy, nerve deafness and dilatation of the urinary tract. All four of the cases described developed grand mal epilepsy in their second and third decades. Two of the cases developed progressive ataxia. There was one death due to status epilepticus. Absence of most of the corpus callosum and of the septum pellucidum was noted at autopsy. This pathological finding has not been reported previously in this syndrome. These cases highlight the neuro-degenerative aspects of the Wolfram syndrome. The literature on neurological aspects of the syndrome is reviewed.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0332-3102
pubmed:author
pubmed:issnType
Print
pubmed:volume
85
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
34-6
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
1992
pubmed:articleTitle
The Wolfram syndrome: a primary neurodegenerative disorder with lethal potential.
pubmed:affiliation
Department of Diabetes Mellitus & Endocrinology, Mater Misericordiae Hospital, Dublin.
pubmed:publicationType
Journal Article, Review, Case Reports