Revision of diagnosis in a child with type 1 diabetes mellitus due to appropriate genetic testing – Wolfram Syndrome

We present a middle childhood boy with type 1b diabetes mellitus (defined as insulin-dependent diabetes mellitus without evidence of autoimmunity) diagnosed at the age of 4 years who was on a basal bolus insulin regimen. Identifying the presence of bilateral optic atrophy in him during an ophthalmological evaluation led to a closer clinical assessment for Wolfram syndrome. Although there was no hearing loss on the audiogram and no evidence presently of arginine vasopressin (AVP) deficiency, we proceeded with genetic testing by next-generation sequencing. This confirmed the diagnosis of Wolfram syndrome with significant prognostic implications. Wolfram syndrome, also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a rare autosomal recessive neurodegenerative disorder primarily caused by mutations in the WFS1 and CISD2 genes. It is characterised by early-onset insulin-dependent diabetes mellitus, progressive bilateral optic atrophy, hearing loss and AVP deficiency. Other complications include neurological degeneration, urinary tract dysfunction, psychiatric disturbances and eventually respiratory failure. This case emphasises the importance of early diagnosis, genetic confirmation and a multidisciplinary approach in clinical management.