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Doose, syndrome
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(Epilepsy with myoclono-astatic crises)
Rare: 1 to 2 % of childhood epilepsies. Autosomal dominant transmission of a mutation of the CDH2 gene (15q26.1). Onset between the age of 7 months and 6 years (peak between 2 to 5 years), most commonly in boys. There are often other cases of epilepsy (although with a different presentation) in the family. The child's psychomotor development is normal before the onset of the seizures.
The seizures may present as:
- typically: symmetrical myoclonus immediately followed with a loss of muscle tone and a fall
- but also: absences, generalized tonic-clonic seizures, status epilepticus crisis (in 30 % of cases).
- repeated generalized tonic-clonic seizures (febrile or not) often precede the typical crises by a few months
EEG: between crises, generally normal with spikes to 2 - 3 Hz; most important discharges during sleep.
Treatment: high doses of valproic acid, lamotrigine, clonazepam, sometimes ketogenic diet.
Variable prognosis: good in 50 % of cases (idiopathic forms) worst if the disease starts with tonic-clonic seizures. The treatment fails to control seizures in about 30 % of cases that are evolving toward a status epilepticus with drowsiness, tremors of the hands and the perioral muscles and tonic seizures during sleep: the status epilepticus disappears after a few months but leaves sequelae (cognitive and motor disorders, dyspraxia, dysarthria)
Anesthetic implications:
Epilepsy resistant to treatment
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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 :
- 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