Download - A Case Of Wolfram Syndrome
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
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