Case report and literature review: Bannayan-Riley-Ruvalcaba syndrome in a patient with intestinal polyposis

Abstract

Introduction: Bannayan–Riley–Ruvalcaba syndrome (BRRS) is an autosomal dominant disorder caused by germline mutations in the PTEN gene, a crucial tumor suppressor that regulates the PI3K/AKT pathway, a central cellular signaling pathway controlling growth, proliferation, and metabolism; this gene is located on chromosome 10q23.31, and mutations are present in approximately 60% of cases, making it a rare condition with unknown prevalence; Clinical manifestations: Diagnosis is clinical and characterized by variable manifestations such as macrocephaly, gastrointestinal hamartomatous polyps reported in 45% of cases, genital lentiginosis, lipomas, intellectual disability, and developmental delay, among others; Complementary studies: Imaging studies reveal a pattern of overgrowth with macrocephaly and lipomatosis as prominent findings, in addition to vascular manifestations (hemangiomas), gastrointestinal findings (polyps), and thyroid abnormalities; Course and surveillance: This syndrome typically presents in childhood, in contrast to Cowden syndrome, which has adult onset, underscoring the importance of accurate diagnosis and early surveillance of clinical manifestations, including monitoring of macrocephaly and neurodevelopment in children, while adults require cancer screening (e.g., breast, thyroid, endometrium, and kidney) due to an increased long-term risk of both gastrointestinal and extraintestinal malignancies; Management: Management and surveillance should be multidisciplinary, including psychological follow-up and genetic counseling, to address the implications of this complex chronic syndrome, its complications, and to improve patient quality of life; Case presentation: We describe the case of a patient with intestinal polyposis and a diagnosis of a PTEN-related hamartomatous tumor syndrome.