Bannayan Ruvalcaba Riley Syndrome
نویسندگان
چکیده
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.
منابع مشابه
Bannayan-Riley-Ruvalcaba syndrome: MRI neuroimaging features in a series of 7 patients.
SUMMARY Bannayan-Riley-Ruvalcaba syndrome is a congenital disorder characterized by macrocephaly, intestinal polyposis, lipomas, and pigmented macules of the penis. There is limited published radiologic literature on the syndrome. The purpose of this study was to review the brain MR imaging findings in Bannayan-Riley-Ruvalcaba syndrome as well as to compare and contrast the findings with other ...
متن کاملMutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.
We report three new mutations in PTEN, the gene responsible for Cowden disease in five patients with Bannayan-Riley-Ruvalcaba syndrome from three unrelated families. This finding confirms that Cowden disease, a dominant cancer predisposing syndrome, and Bannayan-Riley-Ruvalcaba syndrome, which includes macrocephaly, multiple lipomas, intestinal hamartomatous polyps, vascular malformations, and ...
متن کاملA Rare Cause of Glans Penis Pigmentation: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba syndrome is a rare condition caused by mutation in the PTEN gene. It can cause pigmentation defects, hamartoma and behavioural abnormalities. We report the case of a 10-yearold boy with short stature, pigmented maculae on the glans penis, obsessive-compulsive disorder and macrocephaly. The case is presented due to the rarity of the condition and its predisposition to tu...
متن کاملMuscle Hemangiomatosis Presenting as a Severe Feature in a Patient with the Pten Mutation: Expanding the Phenotype of Vascular Malformations in Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare autosomal, dominantly-inherited, hamartoma syndrome with distinct phenotypic features. Mutations in the PTEN gene have been identified in PTEN hamartoma tumor syndromes. Our aim was to determine the correlation of phenotype-genotype relationships in a BRRS case. We have evaluated a PTEN mutation in a patient with vascular anomalies and the phen...
متن کاملTreatment of intractable abdominal pain patient with Bannayan-Riley-Ruvalcaba syndrome using spinal cord stimulation.
OBJECTIVE This case report presents an application of spinal cord stimulation to a patient with intractable abdominal pain Bannayan-Riley-Ruvalcaba syndrome, that conventional treatment failed to ameliorate. MEASUREMENTS The patient underwent an uneventful spinal cord stimulator (SCS) trial with percutaneous placement of 2 temporal 8-electrode epidural leads (Medtronic Inc, Minneapolis, Minne...
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