CC BY-NC-ND 4.0 · Journal of Digestive Endoscopy 2013; 04(04): 131-134
DOI: 10.4103/0976-5042.132436
Case Report
Society of Gastrointestinal Endoscopy of India

Bannayan-Rilay-Ruvalcaba syndrome presenting with recurrent lower gastrointestinal bleed: A Case Report and a review of the literature

Jaswinder Singh Sodhi
Department of Gastroenterology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India
,
Abid Shoukat
Department of Gastroenterology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India
,
Zaffar Ali Wani
Department of Gastroenterology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India
,
Rayees Ahmed
Department of Gastroenterology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India
,
Shaheen Nazir
Department of Gastroenterology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India
,
Zaffar Iqbal Kawoosa
Department of Gastroenterology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India
› Author Affiliations
Further Information

Publication History

Publication Date:
26 September 2019 (online)

Abstract

Bannayan-Rilay-Ruvalcaba syndrome (BRRS) is a rare congenital disorder, characterized by macrocephaly, hamartomas, lipomas, and genital lentiginosis with or without PTEN gene mutations. We report a case of BRRS in a 12-year-old male child with recurrent bleeding per rectum with hamartomatous intestinal polyposis involving whole colon and few polyps in stomach and first part of duodenum; small subcutaneous lipomas over left lumber area. In addition patient had macrocephaly, cutaneous hyperpigmentation with lentiginosis, and pigmented freckles on the external genitalia. Bleeding polyps were removed with snare polypectomy. Patient was put on iron supplements and is on regular follow-up.

 
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