Wolfram syndrome: A rare case report.

Area of Science:

• Pathology
• Genetics
• Endocrinology

Background:

• A 19-year-old male with a history of diabetes, hypocontractile bladder, congenital bilateral megaureter with vesico-ureteric reflux, and hemiparesis presented with breathlessness and oliguria.
• The patient had a history of a right fronto-parietal infarct and was on insulin, testosterone, and antihypertensives.

Observation:

• Autopsy revealed bilateral kidneys with coarse granularity and scarring, dilated pelvicalyceal systems, and ureters.
• Histological examination showed diabetic nephropathy in the kidneys and a decreased number of islet cells in the pancreas.
• A right-sided intra-abdominal testis was identified.

Findings:

• The combination of clinical history, laboratory data, and autopsy findings met the EURO-WABB criteria (1 major + 2 minor) for Wolfram Syndrome.
• While genetic confirmation was not performed, the case strongly suggests Wolfram Syndrome.

Implications:

• This case emphasizes the utility of autopsy in diagnosing rare genetic disorders like Wolfram Syndrome, especially when clinical presentation is complex.
• It highlights the multi-systemic nature of Wolfram Syndrome, affecting the kidneys, pancreas, and potentially neurological and genitourinary systems.
• The findings contribute to the understanding of the phenotypic spectrum and diagnostic criteria for Wolfram Syndrome.