Posters

Ataxia with isolated vitamin E deficiency and retinitis pigmentosa: about 1 case

Poster Details

First Author: S.Lakrimi MOROCCO

Co Author(s): R. Abdi   S. Afkir   Z. Haddar   S. Chariba   A. Maadane   R. Sekhsoukh     

Abstract Details

Purpose:

We discuss in this case the ophthalmological manifestations of ataxia with Isolated Vitamin E Deficiency (AVED )

Setting:

CHU MOHAMED VI OUJDA

Methods:

we report the case of Ataxia with Isolated Vitamin E Deficiency and Retinitis Pigmentosa

Results:

We report the case of a 37-year-old patient who had been followed for AVED  for 12 years. The patient was supplemented with vitamin E, and  supplementation was stopped 4 years prior to admission. The ophthalmological examination found a vertical nystagmus, a corrected visual acuity at 8/10 and a normal anterior segment in both eyes. Ophthalmoscopy showed the typical changes of retinitis pigmentosa. Macular OCT showed slight macular atrophy of the left eye. Laboratory data revealed a low serum vitamin E concentration Cerebral magnetic resonance imaging showed Vermian and cerebellar atrophy. There was no abnormality on electrocardiography (ECG)

Conclusions:

Our report emphasizes the importance of serum vitamin E screening in patients with spinocerebellar degeneration resembling Friedreich's ataxia, particularly if the clinical features include retinitis pigmentosa, since this neurological disorder can be arrested by appropriate supplementation with vitamin E.

Financial Disclosure:

None