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[Carlevoix-Saguenay type recessive spastic ataxia. A report of a Spanish case]
I Pascual-Castroviejo1, S I Pascual-Pascual, J Viaño
1Servicio de Neurología Pediátrica, Hospital Universitario La Paz, Madrid, España. pascas@inves.es
Objective:
To present the first Spanish case, perhaps the first non-Canadian, with ataxia type Charlevoix-Saguenay.
Clinical Case:
A patient with important psychomotor delay and non-progressive ataxia has been studied in our Service during the first years of life and his follow-up has been carried out until 30 years of age. He has been studied from the clinical, ophthalmological and neuroradiological with magnetic resonance point of views.
Results:
Ataxia and psychomotor delay showed a non-progressive evolution. The patient showed myelinated retinal fibers and atrophy of the superior half of the cerebellum.
Conclusion:
Neurological, ophthalmological and magnetic resonance images showing atrophy of the superior part of the cerebellum are the three main signs of the ataxia type Charlevoix-Saguenay. This patient could be the first case reported out Canada.