A Mini Review of Doose Syndrome: Clinical Manifestations, Diagnosis, and Treatment

Abstract

Doose syndrome, or myoclonic-astatic epilepsy (MAE), is a rare and complex epileptic encephalopathy that affects young children. Characterized by myoclonic-atonic seizures, generalized tonic-clonic seizures, and atypical absence seizures, the etiology of Doose syndrome is heterogeneous and involves both genetic and environmental factors. While advancements in genetic research have contributed to a better understanding of the syndrome, no major genetic factor has been identified, highlighting the need for further investigation. Diagnosis relies on thorough clinical evaluation, electroencephalographic findings, and, in some cases, genetic testing. Early diagnosis is critical, as certain antiepileptic drugs may exacerbate the condition, while others can provide better seizure control. Treatment options include medications such as valproate, levetiracetam, and lamotrigine, ketogenic and modified Atkins diets, corticosteroids, and, in refractory cases, corpus callosotomy. Recent studies have also shown promise in using highly purified cannabidiol for the treatment of refractory epilepsy in Doose syndrome. Future research should focus on elucidating the genetic and environmental factors involved in the development and progression of Doose syndrome and identifying novel therapeutic targets. Additionally, further investigation of existing treatment options, including dietary therapies and highly purified cannabidiol, is necessary to optimize patient care and improve long-term prognosis for individuals affected by this rare and challenging epilepsy syndrome.