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Pyridoxine-dependent epilepsy — RACP Paediatrics MCQ

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HardNeonatalPyridoxine-dependent epilepsyRACP Paediatrics

A 3-month-old has electrographic seizures continuing despite correction of glucose, calcium and magnesium and appropriate first- and second-line antiseizure medicines. MRI and initial infection studies are unrevealing. With senior airway staff and continuous EEG present, which empirical metabolic treatment should be given next?

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Correct answer: C — Give pyridoxine 100 milligrams intravenously as the initial vitamin-responsive trial

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

A is correct. RCH advises an empirical pyridoxine 100 mg IV trial in children up to six months with seizures refractory to standard anticonvulsants. It should occur with EEG, cardiorespiratory monitoring and clinicians able to manage apnoea or respiratory depression. B may be considered later when pyridoxine-dependent epilepsy remains suspected but is not the first RCH trial. C is relevant to selected folinic-acid-responsive disorders after specialist assessment. D treats biotinidase deficiency but is not the immediate standard refractory-seizure challenge. E treats thiamine-responsive metabolic disease, not the usual first vitamin trial here. A response supports urgent metabolic/genetic confirmation; absence of response does not end the diagnostic evaluation.

Reference: Royal Children’s Hospital Melbourne: Seizures—acute management: https://www.rch.org.au/afebrile_seizures/