Abstracts

Rationale: Dravet syndrome (DS) is a severe epilepsy syndrome characterized by early onset of multiple types of seizures. Reflex seizures have been reported in patients with DS provoked by increased body temperature or visual stimulation. We report the first case of reflex seizures triggered by diaper change and using warm wipes in a child with DS. Methods: Case description and study. Results: A 2-year and 9 month-old girl came to our attention at the age of 15 months with a history of intractable epilepsy and intellectual disability. She was a product of full term pregnancy and uncomplicated delivery, and was previously well with no history of trauma or meningitis. The parents were cousins with one other healthy child and no similar family history of epilepsy or other neurological disease. Her early psychomotor development was apparently normal but slowed down from the age of 1 year. Her seizures started at the age of 8 months when she began to have recurrent right-sided tonic seizure with up-rolling of the eyes and cyanosis lasting for few minutes, followed by drowsiness and sleep. The seizures occurred with increasing frequency and occasionally also involved the left side of the body. The mother noticed that some of the seizures are triggered by illness, fever, or by changing her dipper. These seizures usually started few seconds after the beginning of changing her diaper and starting to wipe her genital area with a cloth soaked with warm water. The father recorded a video of one of these seizures, which was induced by the child's mother during a diaper change. She was clearly awake and interactive while lying comfortably on her back for the diaper change. Once the mother started wiping and cleaning her, she became distraught and poorly responsive followed by head and eye deviation to the right side followed by right arm posturing. The diaper change was stopped immediately and the child went on to have clonic jerking of the arm, head, and face lasting for less than one minute. She woke up afterward but seemed drowsy. These seizures occurred consistently with each diaper change depending on the state of seizure control. The seizures were poorly controlled on multiple antiepileptic drug (AED) trials that included Valproic acid, Clonazepam, Carbamazepine, Topiramate, and Levetiracetam. She had four prior hospital admissions for investigations and management of seizure worsening and received on one occasion intravenous pulse of methylprednisolone with temporary improvements. Detailed metabolic workup and brain MRI were unremarkable. Interictal EEG showed intermittent focal spikes and spike-and-wave discharges maximally involving the left frontal head region (F3, F7). Given this history, we suspected the diagnosis of DS, which was confirmed by a positive deletion involving the SCN1A gene. Subsequently, the child was referred to a higher epilepsy tertiary care center for possible treatment using the ketogenic diet. Conclusions: The case we report widens the spectrum of triggers causing reflex seizures in children with DS. Cortical hyperexcitability resulting from the genetic defect explains the tendency to experience such reflex seizures. Funding: None