Endocrine Abstracts

Introduction: Hypoparathyroidism is an uncommon condition in children characterized by hypocalcemia and hyperphosphatemia due to defective synthesis /secretion of parathyroid hormone (PTH), end organ resistance or an inappropriately activated calcium-sensing receptor (CaSR). Clinical symptoms include muscle spasms, stridor, seizures, and syncope. It is rare for a child with this condition to present with cardiac failure at diagnosis. The therapeutic approaches mainly focus on normalizing calcium levels with the use of calcium supplements and active vitamin D. Here, we present an adolescent boy with cardiac failure secondary to isolated hypoparathyroidism.

Case history: A 13-year-old boy, previously fit and well with only a week’s history of hand twitching, spasms and feeling breathless while playing football. He presented in a critical condition with respiratory distress and poor cardiac function. There was no significant medical, surgical, or family history and examination did not reveal any signs of ectodermal dysplasia or fungal infection. The patient required ventilation and inotropic support. Initial echocardiogram showed systolic impairment with poor ejection fraction (EF:35%), and a rim of pericardial effusion in a structurally normal heart. Initial calcium levels were significantly low 1.69 (2.15–2.74 mmol/L) with an inappropriately normal PTH level of 2.1(1.1–6.9 pmol/L), low urine Calcium/creatinine and a normal vitamin D level. Bone profile for close family members was normal. Intravenous calcium and Alfacalcidol were administered, resulting in gradual improvement of calcium levels. Additional tests showed a normal autoimmune workup, elevated cardiac markers (high troponin T 6203 ng/L 0–14), NT-pro B type natriuretic peptide levels 11 346 ng/L (<200) and positive adenovirus PCR on nasopharyngeal aspirate sample. The hypoparathyroidism gene panel result was normal. Currently patient is well with a stable calcium level, a low normal PTH and normal cardiac function.

Conclusion: This case highlights an unusual presentation of hypoparathyroidism. Adenovirus infection can lead to cardiac failure but not known to cause parathyroid dysfunction. Hypoparathyroidism seems idiopathic in our patient, and we speculate if the adenovirus infection further contributed to this critical presentation which needed collaboration between the endocrinologist and cardiologist for comprehensive management.