Case Report

Neonatal Hepatitis as First Manifestation of Hyperimmunoglobulinemia D Syndrome

Table 1

Investigations performed in the neonatal period.

ExaminationTest result

Haemoglobin (range)5.0–9.5 mmol/L
Leucocytes (highest)45 × 109/L
Thrombocytes (lowest)17 × 109/L
CRP (highest)110 mg/L
Bilirubin total (highest)552 µmol/L
Bilirubin conjugated (highest)392 µmol/L
ALAT (highest)281 U/L
Alkaline phosphatase (highest)483 U/L
Lactate dehydrogenase3235 U/L
Urate0.38 mmol/L
Lactate2.2 mmol/L
Blood cultureNegative
Blood smearExtramedullary haematopoiesis
no lymphoblasts
Bone marrow aspirationNo malignancy
CMV serologyNegative
CMV PCR in blood and urineNegative
EBV serologyNegative
Toxoplasmosis serologyNegative
VZV serologyNegative
Urine metabolic screenNormal
X-ray thoraxNo infiltrates
X-ray abdomenNormal
US abdomenMarked hepatomegaly
CT thorax and abdomenMarked hepatomegaly
US cerebrum2.2 × 2.5 cm echogenic process
CT cerebrum Haemorragia in posterior fossa
ElectrocardiogramNormal
EchocardiographyNormal
Lumbar punctureUnsuccessful