[Wolfram's syndrome presenting as a cerebellar ataxia]. / Ataxie cérébelleuse révélant un syndrome de Wolfram.
Rev Neurol (Paris)
; 163(2): 197-204, 2007 Feb.
Article
in Fr
| MEDLINE
| ID: mdl-17351539
ABSTRACT
INTRODUCTION:
Wolfram syndrome is a genetic disease with recessive autosomic transmission, associating early-onset diabetes mellitus and bilateral optical atrophy. CASE REPORT We report the case of a 47-year-old patient for whom we diagnosed a Wolfram syndrome in view of a late neurological syndrome in association with ataxia and bilateral horizontal nystagmus. The brain resonance magnetic imaging revealed a major atrophy of the brainstem and cerebellum.CONCLUSION:
Wolfram syndrome is a rare pathology, with fatal consequences before the age of 50. The association of diabetes mellitus and optical atrophy, especially when there are other symptoms (ataxia, deafness, diabetes insipidus, neuropsychiatric manifestations or urinary tract disorders) should lead to this diagnosis and to carry out a genetic confirmation.
Search on Google
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Wolfram Syndrome
/
Cerebellar Ataxia
Type of study:
Etiology_studies
Limits:
Humans
/
Male
/
Middle aged
Language:
Fr
Journal:
Rev Neurol (Paris)
Year:
2007
Document type:
Article