Developmental disorders associated with PTEN gene: case series report

Case presentation: 1: A boy with developmental delay and congenital macrocephaly, evolving dysphagia airway hypotonia. Complete exome sequencing was performed detection of pathogenic variant in the PTEN gene (c.737C>T). 2: Premature boy, delayed development departure, macrocephaly ephelides foreskin. He developed nodular hyperplasia ileum painful amplification syndrome pharmacoresistant pain. Sequencing detected an intragenic deletion. 3: Girl autism spectrum disorder identified at 17 months. Neurological examination central hypotonia macrocephaly. Magnetic resonance imaging skull craniofacial disproportion confluent foci hypersignal white matter, suggestive mucopolysaccharidosis. The panel sequence for leukodystrophy, identific orpathogenic c.388 C>G gene.