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


Ozsu E., Sen A., CEYLANER S.

Journal of Pediatric Endocrinology and Metabolism, vol.31, no.1, pp.95-99, 2018 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 31 Issue: 1
  • Publication Date: 2018
  • Doi Number: 10.1515/jpem-2017-0250
  • Title of Journal : Journal of Pediatric Endocrinology and Metabolism
  • Page Numbers: pp.95-99
  • Keywords: penile pigmentation, PTEN mutation, testicular microlithiasis, COWDEN-SYNDROME, PTEN MUTATIONS, PHOSPHATASE, HAMARTOMAS

Abstract

© 2018 Walter de Gruyter GmbH, Berlin/Boston.Bannayan Riley Ruvalcaba syndrome (BRRS) is exceedingly rare, with only about 50 reported cases to date. 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. Close attention must be paid in terms of PTEN mutations in cases of macrocephaly and accompanying neurological and dermatological findings.