Wolfram syndrome: A rare case report
Anitha Padmanabhan1, Aditi Parihar1, Urmi S C Vartak1
1Department of Pathology, LTMMC, Mumbai, India.
Indian Journal of Pathology & Microbiology
|July 31, 2019
Summary
This autopsy case highlights a young male with diabetes, diagnosed with Wolfram Syndrome based on clinical and autopsy findings. The case underscores the importance of recognizing this rare genetic disorder in complex patient presentations.
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.
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