Síndrome de Phelan-McDermid y anestesia general con diferentes hipnóticos / Phelan-McDermid and general anesthesia with different hypnotics
Rev. esp. anestesiol. reanim
; 69(9): 587-591, Nov. 2022. tab
Article
in Spanish
| IBECS
| ID: ibc-211682
Responsible library:
ES1.1
Localization: ES15.1 - BNCS
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 3 intervenciones que precisaron de anestesia general. En ninguna de ellas presentó complicaciones intra o postoperatorias.(AU)
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.(AU)
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Collection:
National databases
/
Spain
Database:
IBECS
Main subject:
Physical Examination
/
Autistic Disorder
/
Neurodevelopmental Disorders
/
Hypnotics and Sedatives
/
Inpatients
/
Anesthesia, General
Limits:
Child
/
Female
/
Humans
Country/Region as subject:
Europa
Language:
Spanish
Journal:
Rev. esp. anestesiol. reanim
Year:
2022
Document type:
Article
Institution/Affiliation country:
Hospital General Universitario de Castellón/España
