Case Report

Neonatal Hepatitis as First Manifestation of Hyperimmunoglobulinemia D Syndrome

Table 2

Investigations performed in the outpatient clinic and at first acute hospitalisation in Denmark 3.5 years of age.

InvestigationResult

Haemoglobin5.2 mmol/L
Leucocytes10.9 × 109/L
Thrombocytes505 × 109/L
CRP142 mg/L
Erythrocyte sedimentation rate72 mm/h
Iron2 µmol/L (ref.: 5–20)
Haptoglobin4.41 g/L (ref.: 0.35–1.85)
Transferrin34 µmol/L (ref.: 24–41)
Urate0.49 mmol/L (ref.: 0.15–0.35)
Lactate dehydrogenase 203 U/L (ref.: 155–450)
IgD100 IU/mL
IgG12.3 g/L (ref.: 3.4–9.1)
IgA3.08 g/L (ref.: 0.12–1.49)
IgM1.64 g/L (ref.: 0.39–2.08)
IgG subclassesNormal
Blood cultureNegative
Blood smearReactive, no lymphoblasts
HIV antibodiesNegative
Complement defect screeningNormal
Vaccination response to HiB1.41 µg/mL (ref.: >1 µg/mL)
Vaccination response to diphtheria1.6 IE/mL (ref: >0.01 IE/mL)
Vaccination response to tetanus0.98 IE/mL (ref: >0.1 IE/mL)
Mannan binding lectin (MBL)220 µg/L
Haemoglobin electrophoresisNormal
Tracheal aspirateMoraxella catarrhalis
Chest X-ray Discrete perihilar infiltrates
Urine cultureNegative