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.
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.