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TitelAutosomal recessive spastic ataxia of Charlevoix-Saguenay with prominent nervous fibers of the optic nerve head. A case report
Abstract Nr.P16
DoelTo present a case of "autosomal recessive spastic ataxia of Charlevoix-Saguenay" with prominent fibers of the optic nerve head.
MethodesOphtalmological, neurological and radiologic findings are described in a 27 year-old man with spastic ataxia of early onset, sensorimotor neuropathy, nystagmus and slurred speech.
ResultatenThe spastic ataxia showed a non-progressive evolution. The ophtalmological work-up revealed prominent nervous retinal fibers of the optic nerve head. The cerebral MRI showed cerebellar atrophy.
ConclusieOur patient shows the three main clinical signs of the "autosomal recessive spastic ataxia of Charlevoix-Saguenay". This case put emphasis on the importance of the fundus examination which makes it possible to distinguish this rare disease from other forms of autosomal recessive spastic ataxia, in particular Friedreich disease.
Auteur 1
NaamLADHA
InitialenR
InstituutErasme Hospital
StadBrussels
Auteur 2
NaamDE WINDT
InitialenA
InstituutErasme Hospital
StadBrussels
Auteur 3
NaamABRAMOWICZ
InitialenM
InstituutErasme hospital
StadBrussels
Auteur 4
NaamCORDONNIER
InitialenM
InstituutErasme Hospital
StadBrussels
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