Paeds Cases · neurology-neurodisability-and-neuromuscular
Infantile spasms and developmental epileptic encephalopathy — clinical case
A clinical case of infantile spasms (West syndrome): a six-month-old boy presenting with two weeks of clustered flexor spasms on waking and developmental regression, illustrating the West syndrome triad, the urgent sleep-EEG and MRI workup, the tuberous sclerosis decision fork, and the first-line vigabatrin-versus-hormonal therapy choice driven by the time-to-treatment effect on developmental outcome.
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Case summary
This six-month-old boy presents with the classic onset of West syndrome: two weeks of clustered flexor spasms on waking, captured on video, alongside developmental regression, a hypsarrhythmic EEG and a focal cortical dysplasia on MRI. He meets the ILAE 2022 definition of infantile epileptic spasms syndrome through the full classic triad, and the immediate priority is prompt first-line therapy, because the lag from spasm onset to treatment is a modifiable risk factor for developmental outcome. The focal cortical dysplasia on MRI and the absence of hypomelanotic macules together tell me this is a structural, non-TSC cause, which sets the first-line drug. [1] [11]
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- [1]Zuberi SM, Wirrell E, Yozawitz E, et al. ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia, 2022.PMID 35503712
- [2]O'Callaghan FJK, Edwards SW, Alber FD, et al. Vigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised controlled trial. Lancet Child Adolesc Health, 2018.PMID 30236380
- [3]Go CY, Mackay MT, Weiss SK, et al. Evidence-based guideline update: medical treatment of infantile spasms. Neurology, 2012.PMID 22689735
- [4]Wilmshurst JM, Gaillard WD, Vinayan KP, et al. Summary of recommendations for the management of infantile seizures: Task Force Report for the ILAE Commission of Pediatrics. Epilepsia, 2015.PMID 26122601
- [5]Pellock JM, Hrachovy R, Shinnar S, et al. Infantile spasms: a U.S. consensus report. Epilepsia, 2010.PMID 20608959
- [7]Stafstrom CE. Infantile epileptic spasms syndrome: mechanisms and therapeutic approaches. Neurotherapeutics, 2026.PMID 41419420
- [9]Wheless JW, Gibson PA, Rosbeck KL, et al. Infantile spasms (West syndrome): update and resources for pediatricians and providers to share with parents. BMC Pediatr, 2012.PMID 22830456
- [11]D'Alonzo R, Rigante D, Mencaroni E, Esposito S. West Syndrome: a review and guide for paediatricians. Clin Drug Investig, 2018.PMID 29086890