Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome. (March 2015)

• Record Type: Journal Article
• Authors: Busa, T.; Milh, M.; Degardin, N.; Girard, N.; Sigaudy, S.; Longy, M.; Olshchwang, S.; Sobol, H.; Chabrol, B.; Philip, N.
• Is Part Of: European journal of paediatric neurology. Volume 19:Number 2(2015:Mar.)
• Page Start: 188
• Page End: 192
• Publication Date: 2015-03
• Subjects: Pediatric neurology -- Periodicals; Nervous System Diseases -- Periodicals; Child -- Periodicals; Infant -- Periodicals; Neurologie pédiatrique -- Périodiques; Pediatric neurology; Electronic journals; Periodicals; Electronic journals; 618.928
• DOI: 10.1016/j.ejpn.2014.11.012
• Languages: English
• ISSNs: 1090-3798

Abstract

<abstract xml:lang="en" abstract-type="author" id="abs0011"> <title id="sectitle0011">Abstract</title> <sec> <title id="sectitle0016">Background</title> <p id="abspara0011">PTEN gene (MIM 601628) is a tumor suppressor gene implicated in PTEN hamartoma tumor syndromes (PHTS) including Cowden syndrome, Bannayan–Riley–Ruvalcaba syndrome, and Proteus-like syndrome. Bannayan–Riley–Ruvalcaba syndrome is considered as the pediatric form of PHTS. More recently, children presenting autism spectrum disorders with macrocephaly (ASD-M) have been reported.</p> </sec> <sec> <title id="sectitle0021">Methods</title> <p id="abspara0016">We report clinical data from seven patients diagnosed in childhood with a PTEN germline mutation, excluding cases of familial Cowden syndrome.</p> </sec> <sec> <title id="sectitle0026">Results</title> <p id="abspara0021">This study underlines the variability of phenotype associated with PTEN mutations diagnosed at pediatric age. Most of the patients did not fulfill usual criteria of Bannayan–Riley–Ruvalcaba syndrome or ASD-M.</p> </sec> <sec> <title id="sectitle0031">Conclusion</title> <p id="abspara0026">PTEN testing should be considered in any child presenting with severe macrocephaly (&gt;+4SD) and another feature of PHTS.</p> </sec> </abstract>