Absence epilepsy — RACGP Fellowship MCQ

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HardPaediatrics and adolescentAbsence epilepsyRACGP Fellowship

A 7-year-old child presents with recurrent staring episodes at school lasting 10 seconds, accompanied by eyelid fluttering and immediate return to normal consciousness. Neurological examination is normal. Hyperventilation performed in clinic triggers an identical event. What is the most likely diagnosis?

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Correct answer: A — Absence seizures

Explanation lettering: E = shown as B · B = shown as C · C = shown as E

The answer is A: Absence seizures. The child meets all diagnostic criteria for childhood absence epilepsy: characteristic age (peak 6–8 years), brief episodes of staring with loss of awareness (~10 seconds), eyelid fluttering, intact baseline neurology, and hyperventilation-provoked events in clinic. Hyperventilation is pathognomonic for provoking absence seizures and would be confirmed by EEG showing 3 Hz generalised spike-and-wave discharges. Option B (daydreaming) fails because daydreaming is not provoked by hyperventilation. Options C (focal seizures), D (syncope), and E (migraine aura) are excluded by the generalised nature of the presentation, the lack of postictal features or systemic symptoms, and the acute hyperventilation sensitivity.

Reference: Rozenblat T, Kraus D, Mahajnah M, Goldberg-Stern H, Watemberg N. Absence seizure provocation during routine EEG: Does position affect diagnostic yield? Seizure. 2021 Jan;84:132. https://pubmed.ncbi.nlm.nih.gov/32446208/ ; Panayiotopoulos CP. A Clinical Guide to Epileptic Syndromes and their Treatment. 3rd edn. 2012. (For international consensus on CAE diagnosis and phenotype.)