Increasing Head Circumference and Jaundice in a 4-week-old Infant

Abstract

1. Marlisa Wolf, MD* 2. Komal Desai, MD* 3. Esther Kisseih, MD*,† 4. Beena Sood, MD*,†,‡ 1. *Children’s Hospital of Michigan, 2. †Neonatology Division 3. ‡Wayne State University School of Medicine Detroit, Michigan A 4-week, full term girl presents to the NICU for jaundice present since 1 week of age and increasing head circumference for over a week. She was born after an uneventful 41-week pregnancy. Family history was significant for Gilbert disease in the father. She has been exclusively breastfed since birth. At 2 weeks of age, she was seen in the emergency department for vomiting after each feeding and jaundice. An abdominal ultrasound showed no evidence of pyloric stenosis; treatment with ranitidine was initiated for suspected gastroesophageal reflux disease. Her clinical jaundice was attributed to breastmilk, and no further laboratory evaluation was completed. At 4 weeks of age, her mother brought the infant to the referring hospital for evaluation of persistent jaundice, increasing head circumference, frequent bruising, and epistaxis. It was confirmed that her head circumference had increased from 33.5 cm (14.5%) at birth to 42 cm (99%) at 4 weeks of age. She was noted to have prolonged bleeding from her intravenous site. Liver evaluation revealed a direct hyperbilirubinemia (total bilirubin of 7.9 mg/dL [135 μ mol/L] with direct bilirubin of 3.9 mg/dL [67 μ mol/L]), and elevated enzyme levels (alanine aminotransferase 83 U/L [1.38 microkatal (ukat)/L], aspartate transaminase 163 U/L [2.7 ukat/L], and alkaline phosphatase 328 U/L [5.47 ukat/L]). She was transferred to our level IV NICU for further management. ### Patient Clinical Course The physical examination upon presentation to the NICU was remarkable for macrocephaly, a bulging anterior fontanelle, icterus, and multiple petechiae. Differential diagnoses included infection, biliary abnormalities including biliary atresia, and late onset hemorrhagic disease of the newborn for which laboratory and radiographic evaluation was initiated. Although the …