Neonatal Hepatitis as First Manifestation of Hyperimmunoglobulinemia D Syndrome

Table 3

Investigations performed at the 5th hospitalisation, three years and eight months of age.

Investigation	Result
Blood smear	Atypical lymphocytes, no malignancy
Bone marrow aspiration	Hypoplastic marrow, no malignancy
Mutation analysis for FMF	Negative
ANA	Negative
ANCA	Negative
Anti-dsDNA	Negative
PCR parvovirus	Negative
PCR EBV	Negative
Lymphocyte subpopulations	Normal
Lymphocyte stimulation tests	Normal
IgD	2012.6 IU/mL (ref.: 11.4, 95% CI: 1–145.5)
Tuberculin skin test	Negative
Sweat test	Sweat Sodium 68 mmol/L (slightly elevated)
Delta 508 mutation analysis	Negative
X-ray thorax	Normal
Echocardiography	Small mitral insufficiency, not haemodynamic significant
US abdomen	Slight hepatomegaly with hyperechogenic patches