• Sara Conti, Maria Condò, Annio Posar, Francesca Mari, Nicoletta Resta, Alessandra Renieri, Iria Neri, Annalisa Patrizi, and Antonia Parmeggiani.
• Child Neurology and Psychiatry Unit, Department of Neurological Sciences, University of Bologna, Italy.
• J. Child Neurol. 2012 Mar 1;27(3):392-7.

AbstractPhosphatase 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.

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