Dr.BHARAT GURNANI
INTRODUCTION-DIDMOAD (Wolfram syndrome ) includes Diabetes Insipidus, Diabetes Mellitus,Optic Atrophy and Deafness.
CASE REPORT-24 year old male presented with defective vision in both eyes.History of deafness since birth andfrequent urinary tract infection.Diabetic since 8 years History of consanguineous marriage between parents.Pedigree analysis showed all 3 siblings affected .UCVA 4/60 RE AND 6/36 LE.Anterior segment examination showed PSCC in BE and restricted ocular movements in RE.Posterior segment showed Optic Atrophy in BE General examination showed scalp hair loss,short limbs,stubby fingers and broad nasal bridge.CT Scan(KUB) showed bilateral hydrouretero-nephrosis and bladder outlet obstruction.MRI Brain showed herniation of cerebellar tonsils .Management-Low vision aids patient was referred to an endocrinologist.The other sibling presented with similar features.
CONCLUSION-DIDMOAD syndrome is a rare case and need high index of suspicion for diagnosis and management.
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