Wolfram syndrome, also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness) syndrome, is a rare and severe genetic disorder. It is characterised by the presence of juvenile-onset diabetes mellitus, diabetes insipidus, optic nerve atrophy, hearing loss, and progressive neurodegeneration. The syndrome is caused by mutations in the WFS1 gene, which plays a role in regulating cellular functions.

The combination of diabetes mellitus and diabetes insipidus in Wolfram syndrome results in both blood sugar and water balance abnormalities. The optic nerve atrophy can lead to vision impairment or blindness, while hearing loss typically develops over time. Neurodegeneration in Wolfram syndrome can affect various parts of the nervous system, leading to a range of neurological symptoms.

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Reference: Urano F. Wolfram Syndrome: Diagnosis, Management, and Treatment. Curr Diab Rep. 2016;16(1):6.