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, cilt.31, sa.1, ss.95-99, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 31 Sayı: 1
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1515/jpem-2017-0250
  • Dergi Adı: Journal of Pediatric Endocrinology and Metabolism
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.95-99
  • Anahtar Kelimeler: penile pigmentation, PTEN mutation, testicular microlithiasis, COWDEN-SYNDROME, PTEN MUTATIONS, PHOSPHATASE, HAMARTOMAS
  • Lokman Hekim Üniversitesi Adresli: Hayır

Özet

© 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.