title: Bannayan-Riley-Ruvalcaba Syndrome in a Patient with aPTENMutation Identified by Chromosomal Microarray Analysis: A Case Report.
abstract: Bannayan-Riley-Ruvalcaba syndrome (BRRS) is one of the phosphatase and tensin homolog hamartoma tumor syndrome with aPTENgene mutation. It is a rare dominant autosomal disorder characterized by cutaneous lipomas, macrocephaly, intestinal polyps, and developmental delay. Diagnosing this syndrome is important, because it may represent the pediatric phenotype of Cowden syndrome, in which there is an increased risk for malignant tumors in children. Until now, the prevalence of BRRS is unknown. Several dozen cases have been reported in the medical literature, but no case has been reported in Korea. Here we report a case of a 19-year-old girl who was diagnosed with BRRS because of macrocephaly, intellectual disability, and intestinal polyps. Her mother had similar findings and aPTENmutation. Neither patient had mutations detected by conventional mutation-detection techniques, but aPTENgene deletion was demonstrated by chromosomal microarray analysis.
authors.affiliation: Department of Pediatrics, Gachon University Gil Medical Center, Incheon, Korea.
authors.forename: Sun Hwa
authors.initials: SH
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, Gachon University Gil Medical Center, Incheon, Korea.
authors.forename: Eell
authors.initials: E
authors.lastname: Ryoo
authors.affiliation: Department of Pediatrics, Gachon University Gil Medical Center, Incheon, Korea.
authors.forename: Hann
authors.initials: H
authors.lastname: Tchah
keywords: Bannayan-Riley-Ruvalcaba syndrome; Microarray analysis