Abstract 145: Case series of Wolfram syndrome – Experience at a tertiary care centre

Background: Wolfram syndrome is an inherited condition that is typically associated with childhood-onset insulin-dependent diabetes mellitus and progressive optic atrophy. Another name for the syndrome is DIDMOAD, which refers to diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. The primary symptoms of Wolfram syndrome (diabetes mellitus, optic atrophy, diabetes insipidus and hearing loss) can emerge at different ages and change at different rates. The exact prevalence of Wolfram syndrome is unknown but a rate of one in 770,000 as estimated in a UK study. In our study, we highlight 4 cases of confirmed and 1 suspected case of Wolfram syndrome from a single center. Methods: Retrospective study of patients with Wolfram syndrome was done. 5 patients – 4 confirmed (as per EURO-WABBdiagnostic criteria) and 1 suspected from year 2007 – 2020 were isolated. Their clinical profile was studied in detail. Results: All patients visited our centre in view of hyperglycemia, diagnosis of Type 1 Diabetes Mellitus was done. Age of Diagnosis of DM ranged from 1.5 to 6 years. Optic atrophy was seen inthree cases. Age of onset of Optic atrophy was 6 to 15 years. Hearing loss was recorded infour cases. Age of onset of SNHL ranged from birth to 10 years. Features of Polyuria & Diabetes Insipidus was seen in one patient. Other features like neuropsychiatric symptoms, GIT features, symptoms of hypogonadism and screen for autoimmune disease was also done. Two patients had neuropsychiatric features, one had gastrointestinal symptoms, coeliac disease screen was negative in all patients, one patient had hypothyroidism. Autoimmune screen for type 1 diabetes was positive in two patients. Genetic screening was done in only one patient and Wolfram syndrome was confirmed. Conclusion: Cases with Wolfram should be followed all their lives. In these cases, rehabilitation to a normal social life is possible with good follow-up and treatment. Due to variability of symptoms, Wolfram syndrome may be overlooked. The condition should be evaluated in a multidisciplinary manner and specific tests are necessary tomake a precise diagnosis and disclose all components of the syndrome. This enables timely rehabilitation of treatable systemic manifestations and allows the detection of carrier state via pre-conceptual counselling and sibling genetic analysis.