Doose Syndrome

Doose syndrome (DS), is a rare developmental epileptic encephalopathy seen in the first 6 years of life.1-2 It presents with myoclonic and/or atonic seizures, and is comorbid with developmental delay, hyperactivity, behavioural regulation issues, sleep disorders, and ataxia.1 Polygenic genetic inheritance is the likely etiology.1 Interictal EEG shows 2-6 Hz generalized spike and wave or polyspike wave discharges with monomorphic theta frequencies in bi-parietal regions.2 Differentials include Lennox Gastaut syndrome and Glucose transporter type-1 deficiency syndrome.1 Antiseizure treatment with valproic acid, clobazam, and levetiracetam; and ketogenic diet is recommended.1-2 Prognosis varies, but spontaneous remission is reported in up to 50-89%.3

 

References

1. Joshi C, Nickels K, Demarest S, Eltze C, Cross JH, Wirrell E. Results of an international Delphi consensus in epilepsy with myoclonic atonic seizures/Doose syndrome. Seizure. 2021;85:12-18; doi:10.1016/j.seizure.2020.11.017
2. Nickels K, Kossoff EH, Eschbach K, Joshi C. Epilepsy with myoclonic-atonic seizures (Doose syndrome): Clarification of diagnosis and treatment options through a large retrospective multicenter cohort. Epilepsia. 2021;62:120-127; doi:10.1111/epi.16752
3. Oguni H, Tanaka T, Hayashi K, et al.. Treatment and long-term prognosis of myoclonic-astatic epilepsy of early childhood. Neuropediatrics. 2002;33(3):122-32; doi:10.1055/s-2002-33675