A case of Riley Ruvalcaba syndrome with a novel &ITPTEN&IT mutation accompanied by diffuse testicular microlithiasis and precocious puberty

Abstract

Background: Bannayan Riley Ruvalcaba syndrome (BRRS) is exceedingly rare, with only about 50 reported cases to date. Case presentation: We report a patient with hypoglycemia, precocious puberty and diffuse testicular microlithiasis accompanying BRRS, and think that this case is important in the light of a newly identified mutation in the PTEN gene. Conclusions: Close attention must be paid in terms of PTEN mutations in cases of macrocephaly and accompanying neurological and dermatological findings.