2026-09-16T03:58:54Zhttps://gredos.usal.es/oai/request

oai:gredos.usal.es:10366/1666882025-07-30T00:01:39Zcom_10366_128023com_10366_3947com_10366_3946com_10366_3823col_10366_128025

Martín Valbuena, Jesús Gestoso Uzal, Nerea Justel Rodríguez, María Isidoro García, María Marcos Vadillo, Elena Lorenzo Hernández, Sandra Milagros Criado Muriel, María Carla Prieto Matos, Pablo 2025-07-29T07:02:01Z 2025-07-29T07:02:01Z 2024 Martín-Valbuena, J., Gestoso-Uzal, N., Justel-Rodríguez, M., Isidoro-García, M., Marcos-Vadillo, E., Lorenzo-Hernández, S. M., Criado-Muriel, M. C., & Prieto-Matos, P. (2024). PTEN hamartoma tumor syndrome: Clinical and genetic characterization in pediatric patients. Child’s Nervous System, 40(6), 1689-1697. https://doi.org/10.1007/s00381-024-06301-2 0256-7040 http://hdl.handle.net/10366/166688 10.1007/s00381-024-06301-2 1433-0350 Financiación de acceso abierto proporcionada por los Fondos Europeos FEDER y la Junta de Castilla y León en el marco de la Estrategia de Investigación e Innovación para la Especialización Inteligente (RIS3) de Castilla y León 2021-2027 [EN] Objective The aim of this study was to provide a full characterization of a cohort of 11 pediatric patients diagnosed with PTEN hamartoma tumor syndrome (PHTS). Patients and methods Eleven patients with genetic diagnostic of PHTS were recruited between February 2019 and April 2023. Clinical, imaging, demographic, and genetic data were retrospectively collected from their hospital medical history. Results Regarding clinical manifestations, macrocephaly was the leading sign, present in all patients. Frontal bossing was the most frequent dysmorphism. Neurological issues were present in most patients. Dental malformations were described for the first time, being present in 27% of the patients. Brain MRI showed anomalies in 57% of the patients. No tumoral lesions were present at the time of the study. Regarding genetics, 72% of the alterations were in the tensin-type C2 domain of PTEN protein. We identified four PTEN genetic alterations for the first time. Conclusions 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. CRUE-CSIC eng Springer Attribution-NonCommercial-NoDerivatives 4.0 Internacional http://creativecommons.org/licenses/by-nc-nd/4.0/ info:eu-repo/semantics/openAccess Cowden syndrome Macrocephaly Children Genetics Genetics Macrocephaly 3201 Ciencias Clínicas macrocefalia genética PTEN hamartoma tumor syndrome: Clinical and genetic characterization in pediatric patients info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion https://doi.org/10.1007/s00381-024-06301-2 Child's Nervous System 40 6 1689 1697