Wolfram Syndrome:  Case Report

Divya  Pathivada; Sandhya  Vanapalli; Sai Sushmitha  Pilla; Pragnatha  Chadaram; Ramya Chappa; Sowjanya Kadari

Divya Pathivada Student, Department of Pharmacy Practice, Avanthi Institute of Pharmaceutical Sciences, Vizianagaram
Sandhya Vanapalli Student, Department of Pharmacy Practice, Avanthi Institute of Pharmaceutical Sciences, Vizianagaram
Sai Sushmitha Pilla Student, Department of Pharmacy Practice, Avanthi Institute of Pharmaceutical Sciences, Vizianagaram
Pragnatha Chadaram Student, Department Of Pharmacy Practice, Avanthi Institute Of Pharmaceutical Sciences, Vizianagaram
Ramya Chappa Student, Department of Pharmacy Practice, Avanthi Institute of Pharmaceutical Sciences, Vizianagaram
Kadari.Sowjanya D.M.O, Holistic hospital, Hyderabad

Abstract

Wolfram syndrome is a condition characterised by juvenile onset of diabetes mellitus ,diabetes insipidus , optic atrophy and deafness also known as DIDMOAD. Wolfram syndrome is rare autosomal recessive disorder caused by mutations in WFS1gene, a gene involved in endoplasmic reticulum and mitochondrial function. Patient presents with diabetes mellitus followed by optic atrophy in 1^st decade, cranial diabetes insipidus and sensorineural deafness in the 2^nd decade, dilated renal outflow tracts as early as in the 3^rd decade and various neurological abnormalities in the early 4^th decade. Other abnormalities include primary gonadal atrophy. Patients eventually develops the all complications of neurodegenerative disorder. The pathogenesis is unknown but the prevalence is 1 in 770,000. Death occurs prematurely often from respiratory failure associated with brain stem atrophy. We describe a case with early onset insulin dependent diabetes mellitus and optic atrophy together should be evaluated with respect to wolfram syndrome and present with persistent polyuria or neurogenic bladder despite good glycaemic control and secondary urological abnormalities. Recognizing and timely management of this condition will help to improve the quality of life in the patient.

Keywords: Wolfram syndrome, polyuria, secondary urological abnormalities, diabetes insipidus, optic atropy, DIDMOAD

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