RESUMO
El síndrome de Phelan-McDermid (PMS) es una enfermedad rara del neurodesarrollo, provocada por una mutación autosómica dominante debido a la deleción terminal de 22q13, dando lugar a un defecto en la proteína SHANK3. Presentamos el caso clínico de una paciente de 12 años con este síndrome, sometida a 3 intervenciones que precisaron de anestesia general. En ninguna de ellas presentó complicaciones intra o postoperatorias.(AU)
Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disease, caused by an autosomal dominant mutation due to the terminal deletion of 22q13, leading to a defect in the SHANK3 protein. We present the clinical case of a 12-year-old patient with this syndrome, who underwent three interventions that required general anesthesia. In none of them did she present intraoperative or postoperative complications.(AU)
Assuntos
Humanos , Feminino , Criança , Anestesia Geral , Transtornos do Neurodesenvolvimento , Transtorno Autístico , Hipnóticos e Sedativos , Pacientes Internados , Exame Físico , Doenças Raras , Anestesiologia , Reanimação Cardiopulmonar , EspanhaRESUMO
Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disease, caused by an autosomal dominant mutation due to the terminal deletion of 22q13, leading to a defect in the SHANK3 protein. We present the clinical case of a 12-year-old patient with this syndrome, who underwent three interventions that required general anesthesia. In none of them did she present intraoperative or postoperative complications.
