The challenge of jaundiced newborns – Unravelling the etiology

The attending physician in the nursery examines a jaundiced 20-h-old term, breastfed, white newborn. He is afebrile, nontoxic and well-nourished, weighs 3.8 kg and measures 50 cm, with a head circumference of 34 cm, but has a weak sucking reflex. Though icteric, he has no hepatosplenomegaly and no bleeding signs. His white blood cell count is 11,100 with a normal differential. His hemoglobin is 95 g/L and his platelet count is 258×10⁹/L. Further investigations reveal a serum indirect bilirubin of 200 μmol/L, a negative Coombs test, identical O positive mother-son blood group and a negative glucose-6-phosphate dehydrogenase test (G6PD). Double phototherapy is immediately initiated. The father informs the physician that family members were splenectomized for a blood problem. Final results included microspherocytes with normal mean corpuscular volume, reticulocytosis of 10% of total red blood cells and a positive osmotic fragility test confirming hereditary spherocytosis.

LEARNING POINTS.

• The appearance of jaundice in the first 24 h of life is pathological and always deserves a complete assessment.

• Between 1994 and 2001, 90 cases of kernicterus were reported in the United States.

• Early signs of bilirubin encephalopathy include lethargy, irritability, poor suction and hypertension With early detection and treatment, this condition can be reversed.

• As a result, professional follow-up of all infants discharged less than 48 h after birth is essential within two to three days.

• Initial investigations, ideally before initiation of treatment, should include a complete blood count, smear and blood group, serum bilirubin (total and direct), and Coombs and G6PD tests.

• A thorough family history is important to detect previous cases of phototherapy, exchange transfusion, G6PD deficiency, hemolytic anemia and splenectomy.

• Spherocytosis is the most common cause of congenital hemolytic anemia with an autosomal dominant inheritance, even though in 10% to 25% of cases, the family history is negative.