Managing Status Epilepticus in a Child with Dravet Syndrome: How Difficult It Could Be?

Previously known as severe myoclonic epilepsy of infancy, Dravet syndrome is characterized by febrile or afebrile prolonged hemiconvulsive seizures or generalized status epilepticus in an infant with previously normal development. Immediate management of status epilepticus is critical in these patients. Early control of status epilepticus prevents further brain damage; however, there is no consensus regarding the management of status epilepticus in children with Dravet syndrome, as many conventional antiseizure medications that are recommended in the management of status epilepticus worsen the seizures in these patients. A 2.5-year-old girl was referred due to status epilepticus which was refractory to antiseizure medications. Sodium valproate, nitrazepam, ketogenic diet, intravenous phenytoin, and midazolam continuous infusion were administered. After controlling status epilepticus, the probable diagnosis of Dravet syndrome was proposed and confirmed by a mutation in SCN1A. As previously stated in numerous case reports, phenytoin worsens seizures in patients with Dravet syndrome. Therefore, it seems logical that in every infant with status epilepticus and probable Dravet syndrome, the practicing physician considers administering intravenous valproate or even midazolam continuous infusion instead of intravenous phenytoin.

Accuracy of Flash Glucose Monitoring in a Patient with Dravet Syndrome on a Ketogenic Diet

We herein report the case of a 3-year-old girl with severe myoclonic epilepsy of infancy known as Dravet syndrome (DS) on a ketogenic diet (KD) whose glucose concentrations were controlled by using a flash glucose monitoring system. Two-hundred ninety-three events of moderate hypoglycemia with a minimum of 45 mg/dL, not related to day or night, were recorded during the observational period. Hypoglycemia rate declined from 24.5% of all measurements to 11.8% over time; one hypoglycemia-associated seizure and one seizure due to ketone concentrations below the therapeutic range were observed. In summary, this case report broadens our understanding of hypoglycemia risk in patients with DS on a KD. Especially in childhood, the painless and easy detection of low glucose concentrations might lead to improved cognitive performance, and the reduction of hypoglycemia-induced seizures.

A case series of reflex myoclonic absence epilepsy of infancy – an age-dependent idiopathic generalized epileptic (IGE) syndrome – with good prognosis

Background Myoclonic epilepsies in the infantile age have varied presentations including benign myoclonic epilepsy of infancy (MEI) on one side and Doose, west, Dravet syndrome as well as recognized syndromes on the severe spectrum on the other side. MEI is an idiopathic disorder characterized by spontaneous myoclonic attacks with onset in the first 2 years of life. Reflex myoclonic epilepsy of infancy (RMEI) has startle- and tectile-induced myoclonias and needs distinct consideration from MEI. Results Hereby, a case series of 3 infants, started with reflex myoclonic absence seizures before 12 months of age, has been described. All the infants have unremarkable birth history, normal development, and examination. They started with myoclonic jerks involving torso and upper extremities and were associated with startle induced by unexpected sounds and tectile stimulation. All children were treated with valproate and were followed till date with minimum follow-up of 12 months and showed complete seizure control at low dose of valproate. At 6-month follow-up, all children were seizure-free with normal development. Conclusion Reflex myoclonic absence epilepsy is an age-dependent idiopathic generalized epileptic (IGE) syndrome, with an apparently good prognosis. It needs to be recognized separately as new syndrome and should be differentiated from the other myoclonic epilepsies of same age.

Vagus Nerve Stimulation in Intractable Epilepsy Associated With SCN1A Gene Abnormalities

Mutations in the SCN1A gene cause a spectrum of epilepsy syndromes. There are 2 syndromes that are on the severe end of this spectrum. The classic severe form, Dravet syndrome, is an epileptic encephalopathy of childhood, causing cognitive decline as well as intractable seizures. Severe Myoclonic Epilepsy of Infancy–Borderline (SMEIB) is a term used to include cases with similar severities as those with Dravet syndrome, but lacking a single feature of classic severe myoclonic epilepsy of infancy. Vagus nerve stimulation is a nonpharmacologic treatment for intractable epilepsy. A retrospective review was conducted of patients with deleterious SCN1A mutations who had vagus nerve stimulation placement for treatment of their intractable epilepsy. These children had onset of their epilepsy between 3 and 29 months of age. Seizure control was assessed 6 months after implantation. Twenty patients are included in the study, with 12 implanted at our institution. Nine of the 12 patients implanted at our institution, who had confirmed pre- and post-implantation seizure assessments, showed improvement in seizure control, which was defined as >50% reduction in generalized tonic-clonic seizures, and 4 of those 12 reported improvement in cognitive or speech development. Seven of the 8 patients not implanted at our institution reported subjective benefit, with 4 relating “marked improvement” or seizure freedom. Vagus nerve stimulation appears to impart a benefit to children with deleterious SCN1A gene abnormalities associated with intractable epilepsy.