PTEN hamartoma tumor syndrome: Clinical and genetic characterization in pediatric patients.
Jesús Martín-ValbuenaNerea Gestoso-UzalMaría Justel-RodríguezMaría Isidoro-GarcíaElena Marcos-VadilloSandra Milagros Lorenzo-HernándezM Carla Criado-MurielPablo Prieto-MatosPublished in: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery (2024)
PTEN mutations appear with a wide variety of clinical signs and symptoms, sometimes associated with phenotypes which do not fit classical clinical diagnostic criteria for PHTS. We recommend carrying out a genetic study to establish an early diagnosis in children with significant macrocephaly. This facilitates personalized monitoring and enables anticipation of potential PHTS-related complications.