Endocrine Abstracts

Background: Hypocalcemia is a serious condition that occurs at any age with various etiologies according to various age groups. Hypocalcemia in infant is an emergency condition and the exact etiology should be identified as early as possible to ensure early appropriate management.

Methods: We are presenting 3 cases for infants who presented with seizures caused by hypocalcemia.

Case 1: A 3-month-old male infant presented with apnea and up rolling of eyes. He was full term with normal birth weight. He had poor weight gain, deep-seated eyes, long philtrum and small hands.

Case 2: An 11-day-old male neonate, presented with left-sided focal seizure. He was full term with normal birth weight. He was breast-fed with no vitamin D supplementation. Physical exam was unremarkable.

Case 3: A 6-day-old female neonate who presented with bilateral upper and lower limb clonic seizure. She was full term with normal birth weight. Her physical exam was normal.

Critical sample was sent at the time of hypocalcemia for the three patients. They received intravenous calcium gluconate during admission then switched to oral calcium.

Results: Laboratory work up for case 1 showed hypocalcemia, hyperphosphatemia and absent parathyroid hormone level in blood. Based on his dysmorphic features and laboratory work up, Sanjad Sakati syndrome was suspected which was confirmed by genetic testing. He is currently on daily oral calcium supplement and alfacalcidiol. For Case 2, patient had hypocalcemia, normal blood phosphorus level and very low vitamin D level. Vitamin D level was done for his mother and it was low. He was discharged on oral calcium and vitamin D. Calcium supplement was stopped after 1 week and he continued on vitamin D till last follow up. Case 3 had hypocalcemia, normal blood phosphorus level, low parathyroid hormone and low magnesium level. She was treated during admission in addition to intravenous calcium gluconate, with intravenous magnesium sulfate. She was discharged on calcium and magnesium supplement which were decreased gradually till stopped after few months. Magnesium deficiency which was the cause of her hypocalcemia was transient with no obvious cause.

Conclusion: Physicians should be aware of the precise approach for investigating the etiology of hypocalcemia in infants, in order to establish an early diagnosis and an early appropriate management, through taking full history and full physical exam and performing the appropriate investigations.