Studija slučaja
https://doi.org/10.66166/cjaim.1.1.10
Managing Anaesthesia in GLUT1 Deficiency Syndrome: Case Report
Ana Jozepović
orcid.org/0000-0003-2724-4243
; Department of Anesthesiology, Reanimatology, Intensive Care Medicine and Pain Therapy, University Hospital Centre Zagreb, Zagreb, Croatia
*
Nevena Mumelaš
; Department of Anesthesiology, Reanimatology, Intensive Care Medicine and Pain Therapy, University Hospital Centre Zagreb, Zagreb, Croatia
Renata Curić Radivojević
; Department of Anesthesiology, Reanimatology, Intensive Care Medicine and Pain Therapy, University Hospital Centre Zagreb, Zagreb, Croatia
* Dopisni autor.
Sažetak
Glucose Transporter Type 1 Deficiency Syndrome (GLUT1-DS) is a rare genetic disorder caused by mutations in the SLC2A1 gene, leading to impaired glucose transport across the blood–brain barrier. Those patients are susceptible to neurologic decompensation, particularly during periods of stress such as surgery. The ketogenic diet, which provides ketones as an alternative energy source, is the cornerstone of treatment. Anaesthetic management in these patients requires careful planning to maintain metabolic stability and preserve neurologic function. Unfortunately, no formal guidelines exist for anaesthetic management.
We present the case of a 26-year-old female with confirmed GLUT1-DS undergoing elective septoplasty and inferior turbinate reduction under general anaesthesia. The patient was on a strict ketogenic diet and had a history of dystonia, epilepsy, and dyskinesia. Perioperative strategies focused on maintaining ketosis, preventing hypoglycaemia, and avoiding agents that could lower the seizure threshold. Fasting was limited to 8 hours, fluids were restricted to 0.9% NaCl and blood glucose was closely monitored (range 4.6–4.8 mmol/L). Anaesthesia was induced with propofol and sufentanil, maintained with sevoflurane and remifentanil, and supported by multimodal non-opioid analgesia. The procedure was uneventful, with no signs of neurologic deterioration postoperatively. The ketogenic diet was resumed the same day.
This case highlights the importance of individualised perioperative management in GLUT1-DS. Elaborate planning and multidisciplinary collaboration that includes maintenance of ketosis, avoidance of glucose-containing solutions, and careful selection of anaesthetic agents is essential to prevent neurologic decompensation. Further studies are warranted to establish evidence-based guidelines.
Ključne riječi
GLUT1 deficiency syndrome; ketogenic diet; anaesthesia; perioperative management
Hrčak ID:
342442
URI
Datum izdavanja:
26.12.2025.
Posjeta: 322 *