Acessibilidade / Reportar erro

Wolfram syndrome - Clinical diagnosis of rare multisystemic condition

Abstract

Wolfram Syndrome consists of a neurodegenerative pathology of genetic character, also known by the acronym DIDMOAD that translates the main findings of this disease, Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness. The article report the case of a patient diagnosed clinically with this syndrome in a general ophthalmology out patient clinic. Considering that patients with this genetic alteration have more than one cranial nerve affected by the disease and clinical history without meningitis or other neurological alterations, one has to think about rare alterations, as is the case with this syndrome. From the diagnosis, the WRUS questionnaire was applied in consultation, which all owed the comparation of the patient with concepts obtained internationally available in the literature.

Keywords:
Wolfram syndrome/diagnosis; Optic atrophy; Diabetes mellitus; Visual acuity

Sociedade Brasileira de Oftalmologia Rua São Salvador, 107 , 22231-170 Rio de Janeiro - RJ - Brasil, Tel.: (55 21) 3235-9220, Fax: (55 21) 2205-2240 - Rio de Janeiro - RJ - Brazil
E-mail: rbo@sboportal.org.br