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Syndrome de Wolfram A propos de deux cas Sayouti A; Benhaddou R; Khoumiri R; Gaboune L; Guelzim H; Benfdil N; Moutaoukil AJ Fr Ophtalmol 2007[Jun]; 30 (6): 607-9Wolfram syndrome is a rare autosomal recessive neurodegenerative disease; it is characterized by the appearance of diabetes mellitus in childhood associated with bilateral optic atrophy that often leads to blindness. Insipid diabetes, deafness, psychiatric disorders, anosmia, anomalies of the urinary tract, nystagmus, ataxia, and myoclonias are less frequent. We report two cases of Wolfram syndrome, diagnosed in a 12-year-old girl and a 13-year-old boy. In each case, there was a history of diabetes mellitus; they consulted for a progressive loss of vision. Ophthalmologic examination objectified that visual acuity was reduced to finger counting in both eyes as well as isolated bilateral optic atrophy and constriction of the peripheral visual field. Through these two cases and a review of the literature, we propose to study the genetic and clinical aspects of Wolfram syndrome.|Adolescent[MESH]|Child[MESH]|Chromosomes, Human, Pair 4/genetics[MESH]|DNA, Mitochondrial/genetics[MESH]|Diabetes Mellitus, Type 1/etiology[MESH]|Disease Progression[MESH]|Female[MESH]|Genes, Recessive[MESH]|Humans[MESH]|Male[MESH]|Membrane Proteins/deficiency/genetics[MESH]|Optic Atrophy/etiology[MESH]|Sequence Deletion[MESH]|Vision Disorders/*etiology[MESH]|Visual Acuity[MESH]|Visual Fields[MESH]|Wolfram Syndrome/classification/*diagnosis/genetics[MESH] |
