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Deficiency in GLUT-1
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(De Vivo syndrome, encephalopathy by deficiency in GLUT-1 )
Very rare. Transmission: autosomal recessive or dominant. Deficiency in the glucose-specific carrier (GLUT-1) through the blood-brain barrier due to a mutation in the SLC2A1 gene in 1p34.2.The clinical presentation varies depending on the residual activity of the carrier.
- classic: seizures starting in the first 4 months of life: apnea, abnormal eye movements. Sometimes intermittent ataxia, alternating hemiparesis, abnormal movements. Unpredictable frequency of these crises that often occur before meals. Acquired microcephaly in 50% of cases
- form without seizures
- form with generalised and atypical seizures (early absences, myoclonus) and abnormal movements mainly triggered by exercise (ballisme, choreoathetosis)
Diagnosis: ratio glycorrhachia/glycemia < 0.35
Treatment: ketogenic diet rich in fats and low in protein and carbohydrates
Anesthetic implications:
epilepsy, ketogenic diet: preoperative clear liquids that are not sweetened !; for volemia maintenance: Ringer lactate; add NaHCO3 in case of pH < 7.35; regular measurement of blood glucose and of urinary cetone bodies (aim at maintaining a 40 to 160 mg/dL level i.d. at least 2 ++ on urine stick); avoid dexamethasone ?
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- take advice from the neuropediatrician: efficacy of the diet, which treatment in case of seizure, side effects (urinary lithiases ?) - evaluation: RBC, WC, platelets, electrolytes, urea, creatinine, Ca, Mg, albumin and prealbumin (nutrition). SGOT and SGPT levels are often moderately elevated - avoid prolonged fasting: clear unsweetened fluids allowed - avoid sweetened fluids in the premedication - avoid IV administration of carbohydrates containing IV fluids - check glycemia at induction: ideally 50-80 mg/dL |
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anesthesia |
- propofol: OK for induction but avoid TIVA: source of glycerol, risk of PRIS and pancreatitis - fluids: 0.9 % NaCl (risk of worsening metabolic acidosis) or Ringer lactate (but lactate promotes gluconeogenesis) - avoid corticosteroids: dexamethasone? - avoid carbohydrate-containing medications (glucose, mannitol, glycerol) if possible - the transfusion of labile blood products is a hidden intake of carbohydrates - in case of hypoglycemia, correct with low doses of glucose (0.25g/kg) - monitor glycemia, pH, electrolytes, NaHCO3 |
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postoperative |
- resume the ketogenic diet as soon as possible - check ketone bodies (urine): between 40 and 160 mg/dL or at least 2 ++ |
Ketogenic diet: perianesthetic recommendations
References :
- Ito S, Oguni H, Ito Y et al.
Modified Atkins diet therapy for a case with glucose carrier type 1 deficiency syndrome.
Brain Develop 2008; 30: 226-8.
- McNeely JK.
Perioperative management of a paediatric patient on the ketogenc diet.
Paediatr Anaesth 2000;10: 103-6.
- Daoudi S, Lounis M, Chibout S, Bensaadi N, Ait-Kaci-Ahmed M.
Maladie de De Vivo ou syndrome de déficit en GLUT-1: à propos d’un cas.
Arch Pédiatr 2014; 21:302-305
- Ichikawa J, Nishiyama K, Ozaki K, Ikeda M et al.
Anesthetic management of a pediatric patient on a ketogenic diet.
J Anesth 2006; 20: 135-7.
- Soysal E, Gries E, Wray C.
Pediatric patients on ketogenic diet undergoing general anesthesia: a medical records review.
J Clin Anesth 2016; 35: 170-5.
- Yoshida T, Shimizu K, Suzuki S, Matsuoka Y, Morimatsu H
Perioperative management of a child with Glucose Transporter Type 1 Deficiency syndrome: a case report.
A&A Practice 2018; 11:35-7
- Conover ZR, Talai A, Klockau KS, Ing RJ, Chaterjee D.
Perioperative management of children on ketogenic dietary therapies.
Anesth Analg 2020 ; 131 :1872-82.
Updated: November 2020