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Flashing lights and epileptic spasms: should we be routinely performing intermittent photic stimulation in infants?
Marvin H Braun1, Naureen Jooma2, Morris H Scantlebury3
1Robert Haslam Fellow in Pediatric Neurology, Department of Pediatric Neurology, Alberta Children's Hospital, Calgary, AB, Canada.
Insights
Photic stimulation can trigger epileptic spasms in infants with specific genetic mutations, a phenomenon previously unobserved in this age group. This case highlights a potential new diagnostic and therapeutic consideration for infantile spasms.
Area of Science:
- Neurology
- Genetics
- Epileptology
Background:
- Photosensitivity, abnormal cortical excitation to light, is typically linked to generalized epilepsies in non-infantile patients.
- Infantile spasms are a severe epilepsy syndrome occurring in infancy.
Observation:
- A patient with infantile spasms due to an ALG13 mutation exhibited photic stimulation-induced epileptic spasms across various frequencies.
- This photic-induced phenomenon worsened without treatment and improved with escalated therapy.
Findings:
- This is the first reported instance of infantile spasms triggered by photic stimulation.
- The observed photosensitivity in infantile spasms may be linked to the ALG13 mutation.
Implications:
- This finding may represent a unique presentation in this patient, specific to the ALG13 mutation, or a broader phenomenon in infantile spasms.
- Further research is needed to determine the prevalence and underlying mechanisms of photic-induced epileptic spasms in infantile spasms.
- This could lead to novel diagnostic approaches and targeted treatments for specific infantile spasms etiologies.
Abstract:
Abnormal cortical excitation in response to photic stimulation (photosensitivity) has historically been associated with generalized epilepsies, in patients outside of infancy. At our tertiary centre, we encountered a patient with infantile spasms secondary to a mutation in ALG13 (c320A>G) who had photic stimulation-induced epileptic spasms over a broad range of frequencies on multiple EEGs, which were worse without treatment and decreased as treatment was escalated. This is the first reported case of epileptic spasms triggered by photic stimulation and it is unclear whether the phenomenon is unique to this patient, to those with this mutation or whether it is present in a broader group of patients with infantile spasms.
