Bannayan Ruvalcaba Riley Syndrome
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Updated: Apr 7, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
Published on: March 23, 2022
Sashidhar V Sagi1, Darren D Ballard1, Rebecca A Marks2
1Department of Medicine, Division of Gastroenterology, Indiana University School of Medicine, Indianapolis, IN.
Abstract:
A 63-year-old male with history of prostate cancer treated with radiation presented for a colonoscopy for small volume hematochezia. The colonoscopy revealed numerous polyps, which were found to be ganglioneuromas on histological examination. He was referred to medical genetics with suspicion for hamartomatous polyposis syndrome and was found to have a mutation in the PTEN gene. Based on this and suggestive clinical findings, he was diagnosed with Bannayan Ruvalcaba Riley syndrome.
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