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doi:10.1111/jpc.12931
INSTRUCTIVE CASE
Unusual cause of hyperbilirubinaemia in a preterm baby Mark Greenhalgh,1 Maya Chopra,2 Nicole Graf,3 David Isaacs4 and Nick Evans1 Departments of 1Newborn Care and 2Medical Genomics, Royal Prince Alfred Hospital, and Departments of 3Histopathology and 4Infectious Disease, Children’s Hospital Westmead, Sydney, New South Waless, Australia
Case History A live male infant was delivered via emergency caesarean section at 34 weeks after the mother presented with a 24-h history of decreased movements and was found to have a pathological cardiotocograph. The infant had apgars of 6 and 8, at 1 and 5 min, respectively, and a birthweight of 3040 g (>97th percentile for 34 weeks). There was respiratory distress at birth requiring ongoing continuous positive airway pressure, and the infant was noted to be pale with a markedly distended abdomen and hepatosplenomegaly. The patient was born to non-consanguineous Nigerian parents. The pregnancy up until presentation had been uneventful, with no acute illnesses and a normal morphology scan. The mother’s serology and antenatal investigations were normal. Placental histology was normal. A full blood count at 1 h of life showed a haemoglobin of 71 g/L (121–191 g/L) with a high nucleated red cell count, white cell count of 5.8 × 109 (9–30 × 109) and platelets of 39 × 109 (150–400 × 109). Blood cultures, and newborn screening were sent. The lactate level was normal. Maternal Kleihauer testing was normal. The infant was transfused with 20 mL/kg of both packed red cells and platelets. Jaundice was noted at 6 h, and the infant was transferred to a tertiary centre for management of his hyperbilirubinaemia (serum bilirubin 273 μmol/L at 12 h of age, conjugated bilirubin of 12 μmol/L, albumin of 25 g/L). Two double-volume exchange transfusions were required. Both maternal and the infant’s blood groups were positive, Direct Antiglobulin Test was negative and a glucose-6-phosphate dehydrogenase screen was normal.
Key Points 1 Both the familial and acquired forms of HLH can present in the neonatal period. 2 Through the clinical features resemble that of congenital infection, obstetricians and neonatologists should be aware of this differential diagnosis particularly in the presence of hepatic failure. 3 Genetic confirmation of the diagnosis is vital for accurate genetic counselling for future pregnancies. Correspondence: Dr Mark Greenhalgh, Department of Newborn Care, Royal Prince Alfred Hospital, Missenden Road, Camperdown, NSW 2050, Australia. Fax: 02 95504375; email: [email protected] Conflict of interest: None declared Accepted for publication 20 April 2015.
1226
There was evidence of hepatic failure by 72 hours, with the conjugated bilirubin increased significantly up to 250 μmol/L (
doi:10.1111/jpc.12931
INSTRUCTIVE CASE
Unusual cause of hyperbilirubinaemia in a preterm baby Mark Greenhalgh,1 Maya Chopra,2 Nicole Graf,3 David Isaacs4 and Nick Evans1 Departments of 1Newborn Care and 2Medical Genomics, Royal Prince Alfred Hospital, and Departments of 3Histopathology and 4Infectious Disease, Children’s Hospital Westmead, Sydney, New South Waless, Australia
Case History A live male infant was delivered via emergency caesarean section at 34 weeks after the mother presented with a 24-h history of decreased movements and was found to have a pathological cardiotocograph. The infant had apgars of 6 and 8, at 1 and 5 min, respectively, and a birthweight of 3040 g (>97th percentile for 34 weeks). There was respiratory distress at birth requiring ongoing continuous positive airway pressure, and the infant was noted to be pale with a markedly distended abdomen and hepatosplenomegaly. The patient was born to non-consanguineous Nigerian parents. The pregnancy up until presentation had been uneventful, with no acute illnesses and a normal morphology scan. The mother’s serology and antenatal investigations were normal. Placental histology was normal. A full blood count at 1 h of life showed a haemoglobin of 71 g/L (121–191 g/L) with a high nucleated red cell count, white cell count of 5.8 × 109 (9–30 × 109) and platelets of 39 × 109 (150–400 × 109). Blood cultures, and newborn screening were sent. The lactate level was normal. Maternal Kleihauer testing was normal. The infant was transfused with 20 mL/kg of both packed red cells and platelets. Jaundice was noted at 6 h, and the infant was transferred to a tertiary centre for management of his hyperbilirubinaemia (serum bilirubin 273 μmol/L at 12 h of age, conjugated bilirubin of 12 μmol/L, albumin of 25 g/L). Two double-volume exchange transfusions were required. Both maternal and the infant’s blood groups were positive, Direct Antiglobulin Test was negative and a glucose-6-phosphate dehydrogenase screen was normal.
Key Points 1 Both the familial and acquired forms of HLH can present in the neonatal period. 2 Through the clinical features resemble that of congenital infection, obstetricians and neonatologists should be aware of this differential diagnosis particularly in the presence of hepatic failure. 3 Genetic confirmation of the diagnosis is vital for accurate genetic counselling for future pregnancies. Correspondence: Dr Mark Greenhalgh, Department of Newborn Care, Royal Prince Alfred Hospital, Missenden Road, Camperdown, NSW 2050, Australia. Fax: 02 95504375; email: [email protected] Conflict of interest: None declared Accepted for publication 20 April 2015.
1226
There was evidence of hepatic failure by 72 hours, with the conjugated bilirubin increased significantly up to 250 μmol/L (
