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Pivot Concepts:
Gene/Protein
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Target Concepts:
Gene/Protein
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Query: UMLS:C0038220 (
status epilepticus
)
7,272
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:The Wolfram syndrome: a primary neurodegenerative disorder with lethal potential. 156 49
