Introduction: PTH is one of the principal regulatory hormones for calcium and phosphate homeostasis. Hypoparathyroidism, caused by reduced parathyroid hormone (PTH) concentration is characterised by hypocalcemia and hyperphosphataemia. Hypoparathyroidism in children can occur either as part of a genetic syndrome, autoimmune disorder, be acquired secondarily to thyroidectomy or some destructive process of the glands. If the reason for decreased PTH concentration is unknown, it is called idiopathic hypoparathyroidism.
Case presentation: We present a ten-year-old girl who was initially presented to the Department of Paediatric Neurology and Rehabilitation, Medical University of Białystok with convulsions but then after hypocalcaemia was confirmed admitted to the Department of Paediatrics, Endocrinology, Diabetology with Cardiology with suspected hypoparathyroidism. There was no history of candidiasis. In the family history mother had epilepsy and arrhythmias. She was admitted severly unwell with drowsiness and confusion. The physical examination revealed rash on the whole body (propably an allergic reaction to oxcarbazepin), caries, mild dysmorphic features - hyperthelorism. Because of the low PTH concentration (<3 pg/ml) and typical biochemistry (total calcium blood concentration 0.8 mmol/L, plasma phosphate 4.1 mmol/L) hypoparathyroidism was confirmed. Other hormonal analyses showed no thyroid or adrenal gland disorders (TSH, fT4, cortisol, ACTH level normal). Liver and kidney function were normal. Ultrasonography of the thyroid and parathyroids showed a hyperechoic area in the thyroid left lobe (hard in elastography), but no parathyroid pathology. Ultrasonography of abdomen and echocardiography were normal. Long QTc (over 0.5 seconds) was present in the ECG. Hypocalcaemia was initially treated with intravenous and oral calcium, vitamin D3 and the synthetic precursor of active form of the vitamin D3 - alfacalcidol. Hyperphosphataemia was treated with sevelamer, - a phosphate-binding drug. She was also treated with valproic acid for epilepsy and hydrocortisone to reduce her allergy symptoms. Calcium remained low and phosphate raised initially despite treatment until sevelamer was added after which calcium and phosphate normalised. During hospitalisation she developed intermittent fever, raised CRP, features of pneumonia and pericardiam effusion. Despite negative blood cultures and no evidence of viral infections, including HIV, B19 parvovirus, influenza virus, many zoonoses and tuberculosis she was treated empirically with antibiotics. PET MRI didnt reveal any pathology.
Conclusions: Coexistence of hypoparathyroidism with pericarditis and pneumonia is unusual. Sevelamer proved useful in correcting the plasma calcium more rapidly than alfacalcidol alone. A diagnosis of idiopathic hypoparathyroidism may sometimes be modified after other typical symptoms following initial presentation.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology