Nasrola Malik
Wolfram syndrome, also known as DIDMOAD syndrome, is a rare genetic disorder characterized by a combination of diabetes mellitus, diabetes insipidus, optic atrophy, and deafness. This article presents a case study of Wolfram syndrome, exploring its clinical manifestations, diagnostic criteria, underlying genetic mechanisms, and implications for patient management. The syndrome typically presents in childhood or early adolescence and is caused by mutations in the WFS1 gene, which leads to progressive degeneration of pancreatic beta cells, optic nerve cells, and cochlear cells. Patient management involves a multidisciplinary approach, including insulin therapy for diabetes mellitus, ophthalmologic evaluations for optic atrophy, and hearing aids for sensorineural deafness [1]. Genetic counselling and psychological support are also crucial for affected individuals and their families. Continued research efforts are necessary to improve understanding, diagnosis, and potential therapeutic interventions for Wolfram syndrome.