Abstract 85: A rare case of Type 1 DM with polyuria and renal failure: Wolfram syndrome

Introduction: Wolfram syndrome, named after the physician D J Wolfram is a rare inherited neurodegenerative disorder. It is characterised by diabetes insipidus, juvenile-onset insulin dependent diabetes mellitus, optic atrophy, and deafness, and hence is also known as DIDMOAD syndrome. Case Report: A 12-year-old female born of second-degree consanguineous marriage, Type 1 diabetic since four years of age, presented with pain abdomen and urinary retention, metabolic acidosis and progressive renal failure with increased urine output after catheterization. Patient was initially being treated for diabetic ketoacidosis and diabetic renal disease at a peripheral hospital. Radiological evaluation showed bilateral hydronephrosis as a cause of renal failure. On further questioning, patient had decreased visual acuity (VA) for 2 years which was implicated to poor glycemic control. However, eye examination revealed primary optic atrophy with VA 2/60 bilaterally. BERA revealed no hearing abnormality. A diagnosis of Wolfram's syndrome was confirmed usinggenetic analysis, WFS1 gene positive on exon 8 was detected. The patient fulfilled two major and three minor criteria for diagnosis of Wolfram syndrome and was managed accordingly. Conclusion: Renal and ophthalmic involvement in a case of juvenilleonset diabetes mellitus should be assessed for diagnosis other than diabetic complications and syndromic evaluation should be undertaken in suspicious cases.