A Pediatric Case of Bannayan–Riley–Ruvalcaba Syndrome with Recurrent Iron Deficiency Anemia

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.

Keywords

• pten
• pten hamartoma tumor syndrome
• bannayan–riley–ruvalcaba syndrome
• iron deficiency anemia
• intestinal hamartoma
• macrocephaly