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Inicio Revista Española de Anestesiología y Reanimación (English Edition) Phelan-McDermid and general anesthesia with different hypnotics
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Vol. 69. Issue 9.
Pages 587-591 (November 2022)
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Vol. 69. Issue 9.
Pages 587-591 (November 2022)
Case report
Phelan-McDermid and general anesthesia with different hypnotics
Síndrome de Phelan-McDermid y anestesia general con diferentes hipnóticos
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T. Fayos
Corresponding author
tagara.fayos@gmail.com

Corresponding author.
, M. Casañ
Servicio de Anestesia y Reanimación, Hospital General Universitario de Castellón, Castellón, Spain
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Abstract

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.

Keywords:
Syndrome of Phelan-McDermid
22q13 deletion
General anesthesia
Autism
Resumen

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 tres intervenciones que precisaron de anestesia general. En ninguna de ellas presentó complicaciones intra o postoperatorias.

Palabras clave:
Síndrome de Phelan-McDermid
Deleción 22q13
Anestesia general
Autismo

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