Document Detail


Wolfram syndrome.
MedLine Citation:
PMID:  18697639     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Wolfram syndrome is a rare neurodegenerative and genetic disorder, which should be suspected in patients with young onset non-immune insulin dependent diabetes mellitus and optic atrophy. Patients are most likely to develop diabetes insipidus, deafness, urinary tract, and neurological abnormalities. 60% of the people with Wolfram syndrome die at age 35, usually due to central respiratory center failure following brain stem atrophy. Though there is no treatment to reverse the underlying mechanism of neurodegeneration, early diagnosis and adequate hormonal replacement could improve quality of life and survival.
Authors:
V Viswanathan; S Medempudi; M Kadiri
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  The Journal of the Association of Physicians of India     Volume:  56     ISSN:  0004-5772     ISO Abbreviation:  J Assoc Physicians India     Publication Date:  2008 Mar 
Date Detail:
Created Date:  2008-08-13     Completed Date:  2008-10-10     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7505585     Medline TA:  J Assoc Physicians India     Country:  India    
Other Details:
Languages:  eng     Pagination:  197-9     Citation Subset:  IM    
Affiliation:
M.V. Hospital for Diabetes and Diabetes Research Centre, Chennai.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Diabetes Mellitus, Type 1 / physiopathology
Female
Humans
Mutation
Optic Atrophy / physiopathology
Risk Factors
Wolfram Syndrome / diagnosis*,  genetics,  physiopathology

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