[Wolfram's syndrome presenting as a cerebellar ataxia].
BACKGROUND
Wolfram syndrome is a genetic disease with recessive autosomic transmission, associating early-onset diabetes mellitus and bilateral optical atrophy.


METHODS
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.


CONCLUSIONS
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.
Mathis
S
S
Clinique Neurologique, CHU La Milétrie, Poitiers.
Paquis
V
V
Mesnage
V
V
Balaboï
I
I
Gil
R
R
Gilbert
B
B
Neau
J P
JP
D002524:Cerebellar Ataxia / Q000209:etiology*; D004252:DNA Mutational Analysis; D003866:Depressive Disorder / Q000209:etiology; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics; D003926:Diabetic Coma / Q000209:etiology; D017809:Fatal Outcome; D006579:Heterozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D009759:Nystagmus, Pathologic / Q000209:etiology; D015418:Optic Atrophies, Hereditary / Q000235:genetics; D014929:Wolfram Syndrome / Q000150:complications / Q000175:diagnosis*
D008565:Membrane Proteins; C114987:wolframin protein