Management of emergency care, Congenital defects / diseases, Educational Purpose (only if useful for a systematic review or synthesis)
Jan Kloka, Stefanie Kranepuhl, Kai Zacharowski, Florian Jürgen Raimann
(Department of Anesthesiology, Intensive Care Medicine and Pain Therapy, University Hospital Frankfurt, Frankfurt am Main, Germany)
Am J Case Rep 2019; 20:647-650
GLUT1-deficiency-syndrome (G1DS) is an autosomal dominant genetic disorder based on a mutation of the SLC2A1 gene. This mutation can lead to an encephalopathy due to abnormal glucose transport in the brain. G1DS is a rare disease, with an estimated incidence of 1: 90 000.
CASE REPORT: We report a case of a 10-year-old female who presented with recurrent fever, headaches, and vertigo for more than 3 days within 2 weeks following pneumonia. A bilateral mastoiditis was proven by a cerebral magnetic resonance imaging and a cranial computed tomography scan. The patient had to undergo mastoidectomy and thus, her first general anesthesia. Half a year previously she was diagnosed with G1DS. According to the standard of care, a ketogenic diet had been administered since the patient’s diagnosis 6 months earlier. Our patient received a total intravenous anesthesia (TIVA) using propofol, fentanyl, and rocuronium administered without any incidents.
CONCLUSIONS: We recommend normoglycemia during the perioperative phase and avoidance of glucose-based medication to keep a patient’s ketotic state. Our case highlights that TIVA, with the outlined medication used in this case, was safe when the patient’s ketotic state and periprocedural blood glucose was monitored continuously. Nevertheless, we would suggest using remifentanil instead of fentanyl for future TIVAs due to a reduced increase in blood glucose level in our patient.
Keywords: Anesthesia, Intravenous, Glucose Transporter Type 1, ketogenic diet, Metabolism, Inborn Errors, Monosaccharide Transport Proteins, Rare Diseases