Abstracts

Rationale: Reflex epilepsies are characterized by a specific identifiable stimuli repeatedly eliciting seizure. Two forms of water-induced epilepsy have been described. Hot water epilepsy is characterized by seizure activity when the head or body is immersed under hot water; reflex bathing epilepsy is another subtype characterized by seizure activity provoked by the experience of bathing or showering. Methods: Not applicable Results: We report on a 4 year old boy with known developmental delay and behavioral problems who has a reflex epilepsy triggered after removal from a bath.  He was found to have an associated X-linked mutation of the SYN1 gene, specifically the pathogenic c.528-2A>T splice acceptor variant. The ictal features of the patient were suggestive of a focal seizure consisting of unresponsiveness, hypersalivation, cyanosis, and posturing of the right upper extremity. The seizures would repeatedly and consistently occur after getting out of a bath. Multiple EEG recordings, including extended video EEG monitoring were normal. An event was never recorded even with an attempt at provocation. Prior to genetic testing, the presumed diagnosis was breath-holding spells. Only after genetic testing was sent, a diagnosis of epilepsy was made and treatment with an appropriate anti-epileptic drug was initiated. The patient’s prognosis is favorable, as modifying bathing habits can help prevent further seizures. In addition, the patient’s developmental delays and behavioral problems are also explained by the SYN1 mutation. Conclusions: Our case represents a previously described type of X-linked focal epilepsy with reflex bathing seizures that was initially thought to be due to breath-holding spells. This scenario highlights the necessity and utility of genetic testing to assist with the diagnosis of peculiar epilepsy cases. Funding: Not applicable