Bone Abstracts

Background: Idiopathic infantile hypercalcemia (IIH) is a rare disorder caused by CYP24A1 loss-of-function mutation, resulting in impaired degradation of 1,25-dihydroxyvitamin D3. Typical signs include muscle hypotonia, dehydration, failure to thrive, psychomotor retardation, constipation, nephrocalcinosis. IIH should be distinguished from other causes of hypercalcemia in infancy. Treatment includes low calcium diet, glucocorticoids, furosemide, calcitonin. Pamidron...

Background: Hypercalcemia in childhood is rare, can be of various origin and might go unrecognized until severe signs appear. We demonstrate hypercalcemia of different causes in two infants.Case no 1.: 5-month old girl with failure to thrive, constipation, muscle hypotonia, dehydration, where total calcaemia peaked to 4.25 mmol/l. Low calcium diet, application of glucocorticoids and furosemide resulted in a drop in calcaemia to values below 3 mmol/l and ...