PURPOSE: A rare case of a ten-year old patient with type 1b glycogen storage disease (GSD), scheduled for extracorporeal shockwave lithotripsy (ESWL), is described. CLINICAL FEATURES: Patients with type 1b GSD manifest a range of clinical symptoms, including mental retardation, hepatosplenomegaly, 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 GSD can be achieved by cautious attention to the metabolic and homeostatic derangements that occur with the disease.
PURPOSE: A rare case of a ten-year old patient with type 1b glycogen storage disease (GSD), scheduled for extracorporeal shockwave lithotripsy (ESWL), is described. CLINICAL FEATURES: Patients with type 1b GSD manifest a range of clinical symptoms, including mental retardation, hepatosplenomegaly, 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 GSD can be achieved by cautious attention to the metabolic and homeostatic derangements that occur with the disease.
Authors: Adriana Maria Alves de Tommaso; Gabriel Hessel; Adriana Gut Riccetto; Graziela de Oliveira Semenzati; Reinaldo Jordão Gusmão Journal: Rev Paul Pediatr Date: 2019-07-04