Comprehensive Case Study of Wolfram Syndrome in a 12-Year-Old: Diagnostic Challenges and Multidisciplinary Care

Wolfram Syndrome (WS) or DIDMOAD is a rare form of inherited disease of the nervous system, which is categorized by diabetes insipidus, diabetes mellitus optic atrophy, and sensorineural deafness. WS is mentioned in the case of a 12-year-old male child diagnosed with diabetes mellitus at two years of age with an additional complication of vision impairment and hearing loss. Further, WS came to a conclusive diagnosis in 2016 and revealed a pathogenic variant within the WFS1 gene. The purpose of this case study paper is to describe the clinical presentation, how he was assessed and diagnosed, and how his care can be best coordinated. While the study focuses on the use of genetic testing in identifying such syndromes, there is a great need for interdisciplinary cooperation with endocrinologists, ophthalmologists, audiologists, and genetic counsellors. Since there is no cure for the disease, early and constant approaches should be implemented to improve the patient's quality of life, and patient-centred care should be encouraged.