Clin Pediatr Hematol Oncol.
2024 Apr;31(1):1-4. 10.15264/cpho.2024.31.1.1.
A Pediatric Case of Bannayan–Riley–Ruvalcaba Syndrome with Recurrent Iron Deficiency Anemia
- Affiliations
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- 1Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea
- KMID: 2555716
- DOI: http://doi.org/10.15264/cpho.2024.31.1.1
Abstract
- We present a case of Bannayan-Riley-Ruvalcaba syndrome (BRRS) diagnosed during the treatment of recurrent iron deficiency anemia (IDA). IDA is the most common hematological disorder in children and is often caused by dietary problem or obesity. However, in relatively rare cases, it is caused by gastrointestinal (GI) disease. BRRS is a rare genetic disorder characterized by macrocephaly, multiple noncancerous tumors, intestinal hamartomatous polyps, and penile freckling due to a defect in the PTEN gene. GI polyps can cause chronic GI bleeding, leading to IDA development. We recommend active GI evaluation, including esophagogastroduodenoscopy, for children with recurrent IDA.
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