Abstract 157: Early onset VUR: A rare feature of Wolfram syndrome

Abstract

Wolfram syndrome (WS), an autosomal recessive disorder is a form of monogenic diabetes that typically presents with insulin dependent diabetes mellitus in childhood and optic atrophy by the age of 16. Most with WS eventually develop diabetes insipidus and deafness, hence the acronym, DIDMOAD (Diabetes Insipidus (DI), Diabetes Mellitus (DM), Optic Atrophy (OA), and Deafness). Other Urological disorders (UD) & Neurological disorders (ND) usually develop at the beginning of the second decade (5% probability at 12–13 years for UD and 14–15 years for ND) and less than 1% have UD in the first decade. We describe one such a rare case of WS with early-onset urological disorder. A 10 year girl was diagnosed with type 1 diabetes at the age of 4 years and managed with basal bolus Insulin therapy. At the age of 6 years she developed urinary retention. Her sonogram & urinary flow studies revealed bilateral hydrouretreonephrosis with reflux uropathy. She was diagnosed with Vesico ureteric reflux (VUR) with neurogenic bladder dysfunction, in which outflow obstruction is induced by detrusor/sphincter dyssynergia. Due to frequent bedwetting a foley's catherter was inserted and remained insitu until she presented to us. For an year, she had polydipsia & polyuria (intake/output of 5-6L/day) despite fairly controlled blood glucose level. Water deprivation test confirmed the diagnosis of Diabetes Insipidus (DI). She had blurring of vision for around 6 months and ophthalmological evaluation revealed optic atrophy with visual acuity of 6/60 in both eyes. She has mild senorineuronal hearing loss. Our rare case with an early-onset urological disorder satisfies the EURO-WABB criteria (2 major+1 minor) for diagnosis of Wolfram (DIDMOAD) Syndrome. The genetic confirmation results are awaited. She is currently being managed with insulin and desmopressin.