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Vol. 70. Issue 2.
Pages 112-115 (February 2023)
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Vol. 70. Issue 2.
Pages 112-115 (February 2023)
Case report
Anaesthetic implications for Pompe disease. A case description
Implicaciones anestésicas en la enfermedad de Pompe. Descripción de un caso
M. Ruano Santiago
Corresponding author
mrsantiago93@gmail.com

Corresponding author.
, E. Soto Garrucho, Y. González Marín, A.M. Pérez Muñoz, M. Echevarría Moreno
Anestesiología, Reanimación y Terapéutica del Dolor, Hospital Universitario de Valme, Sevilla, Spain
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Abstract

Pompe disease, or type II glycogenosis, is a rare metabolic myopathy inherited in an autosomal recessive pattern, characterized by progressive muscle weakness and multisystem involvement. The disease often results in premature death. Patients with Pompe disease are at high risk for anaesthesia-related complications, particularly cardiac and respiratory problems, although difficult airway management is the greatest complication. It is essential to perform a comprehensive preoperative study in order to reduce the risk of perioperative morbidity and mortality, and to obtain as much information as possible for the surgical procedure. In this article, we report the case of a patient with a history of adult Pompe disease who underwent combined anaesthesia for osteosynthesis of the proximal end of the left humerus.

Keywords:
Pompe disease
Type II glycogenosis
Anaesthesia
Myopathy
Hypertrophic cardiomyopathy
Difficult airway
Malignant hyperthermia
Resumen

La enfermedad de Pompe o glucogenosis tipo II es una miopatía metabólica rara, de herencia autosómica recesiva, que se caracteriza por debilidad muscular progresiva y afectación multisistémica, acompañada, habitualmente, de muerte temprana. Los pacientes con esta enfermedad presentan alto riesgo anestésico en relación a problemas tanto de origen cardiaco como respiratorio, aunque las mayores complicaciones son las derivadas del manejo de la vía aérea, potencialmente dificultoso. Un buen estudio preoperatorio es fundamental para disminuir la morbimortalidad perioperatoria, optimizando y aportando la mayor información posible de cara a la intervención quirúrgica. En este artículo se expone el caso de un paciente con antecedentes de enfermedad de Pompe del adulto sometido a anestesia combinada para osteosíntesis de extremo proximal de húmero izquierdo.

Palabras clave:
Enfermedad de Pompe
Glucogenosis tipo II
Anestesia
Miopatía
Miocardiopatía hipertrófica
Vía aérea difícil
Hipertermia maligna

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