[Carlevoix-Saguenay type recessive spastic ataxia. A report of a Spanish case].
OBJECTIVE
To present the first Spanish case, perhaps the first non-Canadian, with ataxia type Charlevoix-Saguenay.


METHODS
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.


CONCLUSIONS
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.
Pascual-Castroviejo
I
I
Servicio de Neurología Pediátrica, Hospital Universitario La Paz, Madrid, España. pascas@inves.es
Pascual-Pascual
S I
SI
Viaño
J
J
Martínez
V
V
D000328:Adult; D001259:Ataxia / Q000175:diagnosis* / Q000209:etiology; D001284:Atrophy / Q000150:complications / Q000473:pathology; D002531:Cerebellum / Q000473:pathology*; D004576:Electromyography / Q000379:methods; D005500:Follow-Up Studies; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009186:Myelin Sheath / Q000473:pathology; D009412:Nerve Fibers / Q000473:pathology; D011596:Psychomotor Disorders / Q000175:diagnosis / Q000209:etiology; D012160:Retina / Q000473:pathology; D012720:Severity of Illness Index; D013030:Spain; D013577:Syndrome