A case of Riley Ruvalcaba syndrome with a novel PTEN mutation accompanied by diffuse testicular microlithiasis and
Elif Ozsu1, Askın Sen2, Serdar Ceylaner3
1Pediatric Endocrinology, Samsun Obsteric and Children Hospital, Samsun, Turkey, Phone: +90 505 454 75 89, Fax: +90 362 230 91 00.
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.
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