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Paeds Casesneurology-neurodisability-and-neuromuscular

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.

long-case3 min readVerification in progress

Target exams

RACP DCEMRCPCH ClinicalABP General Pediatrics
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Target exams

RACP DCEMRCPCH ClinicalABP General Pediatrics
Prompt
A six-month-old boy is referred for two weeks of sudden flexor spasms that occur in clusters on waking, each lasting one to two seconds and recurring up to 40 times per cluster, captured on a parent's phone video. His mother reports that over the same two weeks he has stopped smiling responsively and no longer babbles. His interictal examination is normal apart from lost social and language milestones. A sleep EEG shows a chaotic, high-voltage pattern with random, asynchronous slow waves of more than 200 microvolts, multifocal spikes, and no recognisable background. A brain MRI shows a focal area of cortical dysplasia in the left frontal region. There are no hypomelanotic macules on Wood's lamp examination.

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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References8ShowHide
  1. [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. [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. [3]Go CY, Mackay MT, Weiss SK, et al. Evidence-based guideline update: medical treatment of infantile spasms. Neurology, 2012.PMID 22689735
  4. [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. [5]Pellock JM, Hrachovy R, Shinnar S, et al. Infantile spasms: a U.S. consensus report. Epilepsia, 2010.PMID 20608959
  6. [7]Stafstrom CE. Infantile epileptic spasms syndrome: mechanisms and therapeutic approaches. Neurotherapeutics, 2026.PMID 41419420
  7. [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
  8. [11]D'Alonzo R, Rigante D, Mencaroni E, Esposito S. West Syndrome: a review and guide for paediatricians. Clin Drug Investig, 2018.PMID 29086890
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