Infantile Epileptic Spasms Syndrome in an Infant with PHACTR1 Mutation Triggered by Whole-Cell-Pertussis Vaccine: A Case Report with Review of Literature
Sreejana Sharma, Murchana Khound, Bipul Kumar Das, Jaya Shankar KaushikAbstract
Background:
Early-onset infantile epileptic spasm syndrome is a known feature of phosphatase and actin regulator 1 (
Clinical Description:
A 1-year-old child presented with history of recurrent seizures for the past 8 months, having onset within a few hours after third dose of pentavalent vaccination containing whole-cell pertussis vaccine. There was associated developmental delay. Examination revealed generalized hypotonia with preserved reflexes.
Management and Outcome:
Routine blood investigations were largely normal. Electroencephalography showed classical hypsarrhythmia, while magnetic resonance imaging of the brain was unremarkable. Whole exome sequencing showed c.1499T>C heterozygous mutation in exon 12 of the
Conclusion:
Genetic analysis is advisable for infants with epileptic infantile spasms which are triggered by vaccination.