Case Number 1
A late preterm infant girl at 36 6/7 estimated gestational age was born via C-section due to concern for worsening placental insufficiency to a 38yo gravida 3 para 2 mother. APGARS were 3 and 8 at 1 and 5 minutes of life respectively. Pregnancy was complicated by suspected trisomy 21 (confirmed postnatally), fetal growth restriction, complete AV canal defect and enlarged liver noted on ultrasound (US) at 34 weeks GA.
Physical exam revealed small for gestational age, upward slanting eyes, low set ears, and palpable hepatomegaly 4cm below right costal margin. Infant was transferred to our institution for subspecialty care. Blood work demonstrated metabolic acidosis, grossly altered coagulation studies, significant hyperbilirubinemia, thrombocytosis, leukocytosis of 110×103/μL (110 ×109/L) with 15% peripheral blasts confirmed on hematopathology review as myeloblasts. Her coagulopathy was treated with fresh frozen plasma and cryoprecipitate. Pediatric hematology-oncology was consulted for treatment and management due to persistent severe leukocytosis and peripheral blasts.
Despite full enteral feeds and the addition of ursodiol, her direct bilirubin level continued to rise, peaking at 26.7 mg/dL (0.267 g/L) around 3 weeks of life. Bilirubin slowly improved but, her liver failure and portal hypertension led to intractable ascites requiring drain placement, systemic hypotension requiring inotropic support, and respiratory failure requiring mechanical ventilation. The decision was made with family for comfort care and the patient passed away at DOL 75.