Are we undertreating calcium deficiency in metabolic bone disease of prematurity? A case report and review.

Background: Both calcium (Ca) and phosphorus (P) are needed to prevent and treat metabolic bone disease (MBDP). However, the predominant focus of many treating neonatologists lies in supplementing P and vitamin D. In this report, we describe a VLBW infant with severe MBDP due to inadequately treated calcium deficiency and discuss the need to recognize this entity. Case details and management: A 25-week, 700 gm baby boy had chronic lung disease and necrotizing enterocolitis. He received total parenteral nutrition, budesonide, furosemide, and caffeine. With high serum alkaline phosphatase (ALP: 1,700 IU/L) and low P (2.8 mg/dl), MBDP was diagnosed at 12 weeks, started on oral phosphate, human milk fortifier, and 1,400 IU/d of vitamin D before discharge. He was readmitted 2 weeks later with decreased lower limb mobility and respiratory distress. X-rays revealed severe osteopenia and fractures of both femurs. Serum P was 4.6 mg/dl but ALP was high (1,700 IU/L), and Ca was low (6.4 mg/dl). Parathyroid hormone (PTH: 605 pg/ml) and 25-hydroxy Vitamin D (25 OHD > 200 ng/ml) were very high. We discontinued his P and vitamin D, hypocalcemia treated with IV Ca gluconate, later oral Ca citrate, and calcitriol. Phosphate was added after normalization of Ca. Over the next many weeks, X-rays and biochemistry improved. Discussion: MBDP results from both Ca and P deficiencies, especially in VLBW infants with comorbidities. P supplementation without treating underlying calcipenia can precipitate hypocalcemia and worsen osteopenia with disastrous consequences. In severe calcipenia, active vitamin D might have a role in addition to an appropriate dose of elemental calcium.

Rare cause of neonatal pulmonary hypertension: Congenital intrahepatic portosystemic shunt through an aneurysm.

Congenital portosystemic shunt is a rare congenital anomaly with abnormal communication between portal venous and systemic venous systems. It can be intrahepatic or extrahepatic. Typically, the intrahepatic shunts are managed conservatively as many of them close spontaneously. We present and discuss clinical, radiological findings of an intrahepatic shunt showing the early occurrence of pulmonary arterial hypertension in the neonatal period which required therapeutic intervention.

Mitochondrial carbonic anhydrase VA deficiency in three Indian infants manifesting early metabolic crisis.

BACKGROUND: Hyperammonemia and hyperlactatemia in neonates and young children with non-specific biochemical markers poses a diagnostic challenge. An accurate diagnosis is essential for effective management. CASE REPORTS: We present three infants from unrelated families, one with infantile and two with neonatal hyperammonemic encephalopathy, hypoglycaemia, and hyperlactatemia. The underlying cause was confirmed following whole exome sequencing as biochemical markers were not conclusive of a definite diagnosis. CONCLUSION: The combination of hyperammonemic encephalopathy, hyperlactatemia and hypoglycemia in neonates and infants should prompt physicians to suspect Carbonic anhydrase VA deficiency. Majority of these children can have a favourable long-term outcome with symptomatic treatment.