Document resource
A female infant presented with recurrent generalised tonic-clonic seizures, persistent upward gaze and a prolonged postictal phase. Clinical examination revealed macrocephaly and global developmental delay. Laboratory investigations demonstrated profound hypocalcaemia, with an ionised calcium level of 0.6 mmol/L, attributed to primary hypoparathyroidism. Neuroimaging via brain MRI identified an acute subdural haematoma characterised by a ‘bat-wing’ configuration along with bilateral diffusion restriction. Subsequent genetic analysis confirmed the diagnosis of glutaric aciduria type 1 (GA1). Initial management included urgent correction of hypocalcaemia, initiation of antiepileptic therapy, supportive measures, dietary adjustments tailored for GA1 and supplementation with L-carnitine. The patient’s clinical status stabilised with resolution of seizures, and she was discharged with plans for continued metabolic and neurological follow-up. This case highlights the necessity of considering metabolic aetiologies, particularly hypocalcaemia secondary to hypoparathyroidism, as potential contributors to seizure activity in infants.