Dr. Aditi Parihar
Lokmanya Tilak Municipal General Hospital and Medical College, Mumbai, India
Title: A rare case of Wolfram Syndrome diagnosed at autopsy
Biography
Biography: Dr. Aditi Parihar
Abstract
Objectives: To present a rare case of Wolfram syndrome diagnosed at autopsy.
Case report: A complete autopsy case of a 19 yrs. old male, admitted in our hospital with breathlessness, oliguria, pedal edema.
He was diagnosed of hypocontractile bladder and congenital bilateral megaureter with vesico-ureteric reflux and DJ stent removal 2years back.
He was diabetic since 7 years of age and was on testosterone and anti hypertensives.
Past history of stroke with left sided weakness and tonic- clonic movements.
His younger brother died of similar complaints and one first male cousin also have similar symptoms, however all females were asymptomatic.
Investigations revealed elevated BUN-57mg% and Se. Creatinine – 6.8mg/dl with low testosterone-0.09mg/dl. At autopsy, externally bilateral kidneys showed coarse granularity with deep cortical scars. Pelvicalaceal system was dilated. Bilteral ureters were dilated with diameter of 1.2cm. A right sided undescended intrabdominal testes was identified showing atrophy on histology. CT scan of the brain showed a chronic infarct on right fronto parietal region, which on section showed gliosis.
Sections from the kidney showed features of diabetic nephropathy. Pancreas had normal acini but decreased number of islet cells.
Conclusion:
Wolfram Syndrome(DIDMOAD) was diagnosed based on clinical picture, investigations and autopsy findings.