I have this opportunity to demystify an infant’s case of long standing jaundice…
The mother’s prenatal course was apparently unremarkable, save for gestational diabetes that was controlled. The mother cannot remember any other symptoms such as flu-like illness, skin rashes, nor was she hypertensive during the prenatal period. Baby was delivered via repeat cesarean section, small for gestational age. He stayed quite long in the hospital because of infection. He was purely breastfeeding. His newborn metabolic screening result was normal. I was not the attending then.
At home, baby was quite fuzzy and irritable. Baby has been being attended to by the original neonatologist. He was jaundiced. In cases of purely breastfed babies, sometimes jaundice can be expected to last for about 3 months but the intensity is not that much compared to that during the first week of life. His stool color was still yellow. He developed umbilical hernia. The skin texture was fine; tongue was normal in size; hair was not coarse; there was no hypotonia; nor was there any constipation (something that is a remarkable findings among babies with hypothyroidism). Baby was worked up for possible hypothyroidism. Thyroid function test was normal. They were advised to go to a pediatric endocrinologist for evaluation.
Mother brought baby to my clinic for second opinion. I saw the laboratory result, it was normal. But what is puzzling is the jaundice that was quite intense. I could not evaluate baby well, especially the abdomen, because he is irritable. I advised mother that baby needs further test and treatment thus they agreed to be confined in the hospital.
I repeated the thyroid function test, it was normal. That reassured me baby has no congenital hypothyroidism which is one dreaded condition a baby can have because of life dependency on thyroid hormones for better quality of life and to attenuate whatever cognitive impairment it has already caused. I still called up an endocrinologist friend to confirm my understanding of baby’s thyroid function test result and she agreed baby is not a case of metabolic disorder.
I treated the baby as a case of sepsis pending work up results. Ultrasound of the abdomen showed the liver is enlarged, the biliary tree is intact. I am not afraid that this baby has biliary atresia which is another “lethal” condition that usually leads to baby’s death in a slow fashion.
Liver enzyme, alkaline phosphate and bilirubin were all elevated (it was a direct hyperbilirubinemia). I started the baby on ursodeoxycholic acid to help eliminate the bilirubin that could also cause inflammation of the liver cells.
After a week in the hospital, baby’s jaundice has significantly decreased and yet the direct hyperbilirubinemia (50%) was still persistent, and alkaline phosphatase level was still significantly elevated. I have discharged baby with instruction to undergo karyotyping and TORCH screening as I haven’t ascertained yet what was causing the baby’s jaundice.
A week later, mother brought back the results of baby’s tests. Karyotyping was NORMAL (thank God). On the other hand, TORCH panel revealed (+) IgM and IgG for cytomegalovirus. I referred the baby immediately to an ophthalmologist for chorioretinitis screening, and to a pediatric infectious disease specialist for further management. CT Scan of the head showed that there were periventricular calcifications near the parietal areas of the brain.
Baby is still jaundiced although the intensity is no longer that dark. He is on supportive treatment.
He will undergo repeat head CT scan as well as chorioretinitis screening one month after the first.