Endocrine Abstracts

Introduction: Hypoparathyroidism is a rare paediatric emergency which presents with hypocalcaemia and signs such as tetany, spasticity and in certain cases, confusion, amnesia and high risk of arrhythmias.

Case: We present the case of a 15-year-old boy, who came to the local emergency department with confusion, retrograde amnesia and lacerations due to presumed fall. He was previously fit and well, except a possible seizure witnessed by colleagues a year prior, associated with fall and then generalized tonic-clonic movements. The patient was kept for observations in a different A&E department and subsequently discharged without follow-up. He underwent head CT which was reported to have bilateral basal ganglia, frontotemporal and parietal subcortical and deep white, bilateral cerebellar dentate calcifications suggestive of bilateral striatopallidodentate calcifications, primary familial brain calcifications or Fahr’s disease. The initial differential diagnosis included metabolic aetiology, vasculitis, mitochondrial disease or other inherited disorders. His baseline blood investigations showed calcium 1.61 mmol/l, with adjusted calcium of 1.49. His first ECG showed a QTc (Bazett) 468 msec. His TFTs, urinary calcium:creatine ratio, vitamin D were normal. Later in the day, the following results were available: PTH 1.0 pmol/l and phosphate 2.77. Within 24 hours of admission the patient developed significant spasticity, tetany, with positive Chvostek and Trousseau signs. After discussion with the tertiary endocrinology service, the patient was commenced on central IV, as well as oral calcium supplements and alfacalcidol. Within 12 hours his QTc normalized and his ionized calcium, from 0.65 improved to 0.8 and was discharged 5 days later. His R153 Familial hypoparathyroidism panel was negative for a genetic cause. Except positive ANA, the rest of autoantibodies work-up was negative. His subsequent brain MRI showed symmetrical increased signal within the basal ganglia on the T1-weighted images in keeping with the known calcification identified on the CT.

Conclusion: Acute symptomatic hypocalcaemia is a rare encounter in the general paediatric setting. The management consisted in multidisciplinary approach along the anaesthetics and tertiary endocrinology teams and a good outcome was achieved. Further work-up is required to establish the cause of hypoparathyroidism in this case.