Abstract
Purpose
A rare case of a ten-year old patient with type 1b glycogen storage disease (CSD), scheduled for extracorporeal shockwave lithotripsy (ESWL), is described.
Clinical features
Patients with type 1b GSD manifest a range of clinical symptoms, including mental retardation, hepato-splenomegaly, renal enlargement, stomatitis, hypoglycaemic convulsions, bleeding diathesis, lactic acidosis and leukopaenia, thus creating a challenge for the anaesthetist. Following preanaesthetic administration of glucose-containing fluids, general anaesthesia was induced and the patient was mechanically ventilated. Except for mild hypoglycaemia after induction of anaesthesia, and moderate intraoperative metabolic acidosis which was attributed to the underlying disorder, anaesthesia was uneventful. No postoperative complications occurred and the patient was discharged home three days after lithotripsy. Clinical features of this rare inborn error of metabolism are reviewed and the approach for the anaesthetic management is discussed.
Conclusions
A skillful perioperative management of patients with type 1b CSD can be achieved by cautious attention to the metabolic and homeostatic derangements that occur with the disease.
Résumé
Objectif
Présenter en cas rare de glycogénose de type 1b chez un patient de dix ans programmé pour lithotripsie extra-corporelle par ondes de choc.
Caractéristiques cliniques
Les patients souffrant de glyco-génose de type 1b présentent une grande variété de symptôme, dont un retard mental, une hépatosplénomégalie, une hyper-trophie rénale, une stomatite, des convulsions par hypoglycémie, une diathèse hémorragique, une acidose lactique et une leucopénie, ce qui représente tout un défi pour l’anesthésiste. Après l’administration de solutions glucosées, l’anesthésie générale a été induite et le patient ventilé mécaniquement. L’anesthésie s’est déroulée sans incident, à l’exception d’une hypoglycémie légère après l’induction, et d’une acidose pero-pératire modérée attribuée à la maladie sous-jacente. Il n’y a pas eu de complications postopératoires et le malade est retourné chez lui après trois jours. Les caractéristiques cliniques de cette rare maladie congénitale et la gestion de l’anesthésie sont discutées.
Conclusions
Il test possible de gérer la période périopératoire des patients souffrant de glycogénose de type b1 avec succès si on tient compte des dérangements métaboliques et homéostatiques qui surviennent avec cette maladie.
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Shenkman, Z., Golub, Y., Meretyk, S. et al. Anaesthetic management of a patient with glycogen storage disease type 1b. Can J Anesth 43, 467–470 (1996). https://doi.org/10.1007/BF03018108
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DOI: https://doi.org/10.1007/BF03018108