Abnormal Calcium, Calcinosis, and Creatinine in Down's syndrome: Case Report

Abstract

The hypercalcaemia in association with trisomy 21 (Down's syndrome) is often not recognised and therefore underdiagnosed. Patients present with the tetrad of hypercalcaemia, Down’s syndrome, renal impairment, and nephrocalcinosis. 1-3   

A 30-month old child with Down’s syndrome had a long history of nonspecific symptoms, constipation and feeding difficulties. He was on excessive bottle feeds, taking 14 bottles daily, each with six ounces of milk.  He presented with a cardiac arrest having been unwell with an acute illness. Blood tests showed hypercalcemia, raised urea and creatinine which were not explained by any other aetiologies. Post-mortem analysis showed acute pyelonephritis and nephrocalcinosis.

In children with Down’s syndrome, early detection of hypercalcaemia and introduction of low calcium feeds may prevent morbidity and mortality. Awareness and monitoring of serum calcium levels along with routine thyroid function tests in children with Down syndrome, would be important to prevent such occurrences.