SAT-061 Severe Hypocalcemia in an Infant with Abnormal Microarray and Dysmorphic Features

Introduction: In pediatrics, hypocalcemia is observed most often in an ICU setting. It can be associated with acute or chronic illnesses. We present a 1 month old male infant with abnormal microarray who presented to the PICU for seizures secondary to severe hypocalcemia. Case presentation: A 1 month old male was admitted to PICU with new onset seizures. Past history was remarkable for NICU hospitalization for respiratory distress, dysmorphic features with genetic evaluation revealing chromosome 10p15.3p14 deletion and chromosome 6p25.3p24.3 duplication with normal karyotype, muscular VSD, neonatal cholestasis, left hydronephrosis and congenital hypothyroidism. Labs obtained during NICU stay did not reveal hypocalcemia at the time. Basic lab work-up done at time of admission showed low Ca level of 5.6, elevated Phos of 9.3 and Mag level of 1.6. Thyroid work-up was within normal. Pediatric endocrinology was consulted for hypocalcemia. Further work-up showed Ca of 7.2, drawn after calcium gluconate riders and on calcium infusion rate at 5 mg/kg/hr, Mg of 1.8, Phos of 6.4, PTH of 36.2 and vitamin D-25 OH of 10, which was most consistent with hypoparathyroidism, likely due to his underlying genetic mutation, given inappropriately normal PTH. We recommended to continue Ca infusion as needed up to 80 mg/kg/day to maintain normal Ca levels and to provide 2000 units of vit D for 6-12 weeks and Calcitriol 0.25 mcg daily for 1 week with monitoring of levels. Patient’s remainder of hospital course was complicated by need for intubation, arrhythmia unrelated to hypocalcemia, sepsis, acute tubular necrosis, which prolonged patient’s need for IV calcium and length of hospitalization. Patient’s electrolytes were normalized and he was able to transition to 25 mg/kg/day PO supplements and 1000 units of vit D with improved levels. He was discharged on these supplements with follow-up. Conclusion: This is a case of severe hypocalcemia secondary to primary hypoparathyroidism from underlying genetic mutation with chromosome 10p15.3p14 deletion. Patient’s complicated hospital course including sepsis and acute tubular necrosis had prolonged the need for calcium infusion until he was eventually transitioned to PO calcium supplementation. It is interesting that to note the association of his underlying genetic mutation and hypoparathyroidism as there has not been any specific pediatric case described with patient’s genetic mutation. 1.