Dravet Syndrome Case Studies

The diagnosis of Dravet Syndrome is based on clinical criteria, namely the onset within the first year of life of prolonged and repetitive febrile or afebrile, generalized or unilateral clonic seizures, in association with other seizure types, delay in psychomotor development, and behavioral disorders.4 It must be emphasized that the diagnosis is entirely clinical, and can be proposed even in the absence of any identifiable mutation of the SCN1A gene during genetic analysis.4 It is also important to consider some alternative diagnoses, which may have a similar or overlapping clinical presentation, and must be ruled out before a conclusive diagnosis of Dravet Syndrome is made.4,5 Figure 6 considers the differential diagnosis of Dravet Syndrome.5
For the management of patients with Dravet Syndrome, treatment goals include: (i) to reduce the frequency and duration of seizures; (ii) to check the development and progression of psychomotor delay; and (iii) to prevent occurrence of comorbid conditions such as behavioral problems, seizure-related injuries, accidents and SUDEP.4 Despite the paucity of universally efficacious AEDs, the overall management strategy has become standardized over the years. It is recommended that as soon as a diagnosis of Dravet syndrome is suspected in a child, prophylactic seizure treatment be instituted with antiepileptic drugs.15 The choice of antiepileptic drugs is based on expert opinion rather than evidence-based studies, and certain AEDs (carbamazepine, oxcarbazepine phenytoin, lamotrigine and phenobarbitol) are contraindicated for use in patients with Dravet Syndrome, because they have been shown to exacerbate the risk of seizures. Valproic acid or benzodiazepines (clobazam or clonazepam) are generally used for first-line therapy.4,15 These two agents are usually prescribed together, because the condition is typically poorly controlled with only one drug in most children.15 Corticosteroids and the voltage-gated calcium-channel blocker, verapamil, are agents which have been used as add-on therapy. Stiripentol or Topiramate are typically considered for second-line therapy.4,15 The institution of a ketogenic diet has been tried as an additional second-line therapy in these patients. The rationale underlying the use of the ketogenic diet is the replacement of glucose and other carbohydrates as energy sources by the fat metabolism. However, the mechanism by which it exerts an anticonvulsant effect has not been elucidated.4 Levetiracetam, bromides, immunotherapy, vagal nerve stimulation and deep brain stimulation are