Presenting Author: Dr. Shaikh Kalamuddin I.Resident, Dr. Vasantrao Pawar Medical College,

NashiikCo-author: Dr. Dhiraj Balwir

Associate Professor, Dr. Vasantrao Pawar Medical College

Guide: Dr. Ajit KhuneAssociate Professor, Dr. Vasantrao Pawar Medical

College

A Case of Wolfram Syndrome

To report a case of Wolfram syndrome characterized by early onset diabetes mellitus and progressive optic atrophy

Purpose

Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by early onset diabetes mellitus and progressive optic atrophy in the first decade of life

Also known as DIDMOAD syndrome, an acronym composed of diabetes insipidus (DI), diabetes mellitus (DM), optic atrophy (OA) and deafness (D)

This syndrome should be considered in young diabetic patients with unexplained visual loss or polyuria and polydipsia in the presence of high blood sugar

The sequence of the Wolfram syndrome gene (WFS1) was described in 1998 and mutations in this gene have been reported in many populations

Introduction

A 24-year-old male patient, a known case of diabetes mellitus type I since 9 years

His parents were consanguineous but healthy, however his grandparents were diabetic

BCVA in both eyes was 6/60Anterior Segment was within normal limitFundus examination was showing bilateral

optic atrophyAlong with this patient also had polyurea,

deafness and delayed sexual maturity

Case

Blood SugarFasting: 385 mg/dlPost-Prandial: 480 mg/dl

Audiogram: sensorineural deafnessUSG Abdomen: dilated bladder, renal calyces

both sides, bladder wall thick with trabeculations

Urogenital Examination: Delayed sexual maturityIntravenous Pyelography and MCUG

Investigations

Wolfram syndrome is a progressive autosomal recesive neurodegenerative disorder

Optic atrophy in a diabetic patient necessitate audiometry and intravenous pyelography

In our patient majority of the symtoms were evident in the second decade of life

Differential diagnoses include congenital rubella syndrome, Leber’s hereditary optic atrophy, and thiamine responsive anemia with diabetes mellitus and deafness

The pathogenesis of the disease remains unknown

Discussion

Right and left eye showing optic atrophy

Thank You