Researchers have reported a case of a child with Dravet syndrome who began to have seizures triggered by wiping during diaper changes and whose seizures worsened after a mild head injury.
The case, “Perineal stimulation triggering seizures in a child with Dravet syndrome,” was published as a clinical letter in Seizure: European Journal of Epilespy.
Dravet syndrome is a rare and severe type of epilepsy characterized by prolonged seizures within the first year of a child’s life, which can cause mental and physical problems. These seizures are varied in nature and are often highly resistant to many existing treatments for epilepsy.
Seizures lasting more than five minutes or consecutive seizures without recovery of consciousness in between, are defined as status epilepticus — life-threatening seizures that require urgent medical treatment.
About 70-80 percent of Dravet cases are caused by mutations in the SCN1A gene, which has been shown to change the sensitivity of nerve cells to temperature, making warm weather, fevers, or sunlight potential triggers of seizures.
Seizures triggered by a specific internal or external stimuli are called reflex seizures. The most common trigger of reflex seizures in Dravet patients is the elevation of body temperature, but external triggers — such as visual patterns, intermittent lights, or music — have also been reported in these patients.
However, touch has rarely been reported as a trigger of reflex seizures in Dravet syndrome patients.
Researchers at The Hospital for Sick Children in Toronto, Canada, have now reported the case of a 3-year-old boy with Dravet syndrome who began to have seizures triggered by diaper changes.
The boy was born to parents of south Indian origin and had a confirmed mutation in the SCN1A gene. At 5 months of age, he started having seizures, which were relatively controlled with low-dose Depacon (sodium valproate), an anti-epileptic medication.
At 18 months, he showed mild developmental delay but could walk with support and spoke four to five words. Around that time, he suffered a mild head trauma, which seemed to have no detectable consequences in sensory perception or brain lesions — assessed through brain magnetic resonance imaging (MRI).
From that point onward, the boy showed further developmental delay and his seizures got worse, with three episodes of status epilepticus requiring prolonged hospitalizations. He had significant difficulties eating, and started to have multiple brief seizures per day, even though he was on several anti-epileptic medications, including Depacon, Onfi (clobazam), and Diacomit (stiripentol).
Now, at 3 years old, the boy is showing a substantial increase in seizure frequency with an undetermined trigger, greater eating difficulties, and an inability to stand.
He also started having a new type of seizure, which was triggered by wiping the perineal region — the area between the anus and the scrotum or the vulva — during a diaper change. Seizures occurred consistently within a few seconds of wiping (either with cold or warm wipes), and lasted for 30 to 60 seconds, followed by rapid recovery. They were thus classified as reflex seizures.
The clinicians conducted an electroencephalography (EEG) — a noninvasive test that records brain electric patterns and is used to detect epileptic seizures — to rule out non-convulsive status epilepticus and to record the electrical activity of one of the reflex seizures triggered by the diaper change.
The boy started to receive another anti-epileptic medication, Topamax (topiramate), but only showed a partial response, and clinicians were considering a ketogenic diet and cannabinoid oil as the next treatment approaches.
The team noted that while a similar case of a diaper change trigger had been reported in a 2-year-old girl from Saudi Arabia, only warm wipes were reported to provoke her seizures, and elevated temperature was pinpointed as the potential underlying trigger.
A previous study has also suggested a “close temporal relationship between mild head injury and a worsening of seizure control in patients with pre-existing epilepsy,” the researchers wrote.
However, the underlying mechanisms of this association, as well as of the wiping trigger, remain unclear.