Informace o publikaci
Vzácné formy diabetu mellitu v dětství:Wolfram-like syndrom
| Autoři | |
|---|---|
| Rok publikování | 2017 |
| Druh | Konferenční abstrakty |
| Fakulta / Pracoviště MU | |
| Citace | |
| Popis | Objective: The Wolfram-like syndrome-WFSL is a rare autosomal dominant disease characterised by the triad: congenital progressive hearing loss, diabetes mellitus and optic atrophy.Methods: the case of a boy with the juvenile form of diabetes mellitus, which clinically matched the symptoms of the Wolfram syndrome, was studied using molecular-genetic methods.Results: At the age of 31 years diabetes mellitus was diagnosed in a boy with severe psychomotor retardation, failure to thrive, a dysmorphic face with Peters’s anomaly type III (i.e. posterior central defect with stromal opacity of the cornea, adhering stripes of the iris and cataract with corneolenticular adhesion); congenital glaucoma; megalocornea; severe hearing impairment to deafness; one-sided deformity of the auricle with atresia of the bony and soft external auditory canal; non-differentiable eardrum; missing os incus; and hypothyreosis and nephrocalcinosis. Molecular-genetic examinations revealed de novo mutation of c.2425G>A in the WFS1 gen. No mutations were proved in the biological parents.Conclusions: Mutation c.2425G>A in the WFS1 gen is associated with the occurrence of the Wolfram-like syndrome-WFSL. |