Phosphatase and Tensin Homolog (PTEN) gene mutations and autism: Literature review and a case report of a patient with cowden syndrome, autistic disorder, and epilepsy

Sara Conti, Maria Condò, Annio Posar, Francesca Mari, Nicoletta Resta, Alessandra Renieri, Iria Neri, Annalisa Patrizi, Antonia Parmeggiani

Research output: Contribution to journalArticlepeer-review

Abstract

Phosphatase and tensin homolog (PTEN) gene mutations are associated with a spectrum of clinical disorders characterized by skin lesions, macrocephaly, hamartomatous overgrowth of tissues, and an increased risk of cancers. Autism has rarely been described in association with these variable clinical features. At present, 24 patients with phosphatase and tensin homolog gene mutation, autism, macrocephaly, and some clinical findings described in phosphatase and tensin homolog syndromes have been reported in the literature. We describe a 14-year-old boy with autistic disorder, focal epilepsy, severe and progressive macrocephaly, and multiple papular skin lesions and palmoplantar punctate keratoses, characteristic of Cowden syndrome. The boy has a de novo phosphatase and tensin homolog gene mutation. Our patient is the first case described to present a typical Cowden syndrome and autism associated with epilepsy.

Original languageEnglish
Pages (from-to)392-397
Number of pages6
JournalJournal of Child Neurology
Volume27
Issue number3
DOIs
Publication statusPublished - Mar 2012

Keywords

  • autism
  • Cowden syndrome
  • epilepsy
  • macrocephaly
  • phosphatase and tensin homolog gene
  • PTEN

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

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