A case of neonatal hemochromatosis in a 3-hour-old male is described. He presented with hypotonia, mild jaundice, and respiratory difficulty immediately after birth. He had no evidence of congenital infection, immune-related hemolysis or exogenous iron uptake. Postmortem examination revealed abnormal facial features. The organs were of normal weight for his age except a small liver and lungs, and a large spleen. The most prominent changes were in the liver and pancreas. The liver was coarsely nodular and fibrotic. The lobular architecture was totally distorted by innumerable multinucleated giant cells, loss or collapse of the hepatocytes, and diffuse fibrosis. A large amount of hemosiderin was seen in the liver, pancreatic acini and thyroid follicular cells. Scanty amount of hemosiderin was also found in the myocardial fibers and renal tubular cells. The pancreas showed hyperplasia and hypertrophy of the islets. The spleen showed severe congestion and a moderate extramedullary hemopoiesis but no deposits of hemosiderin. This patient had three siblings died in neonatal period, one of which had clinical features of neonatal hemochromatosis.
Face/abnormalities ; Hemochromatosis/complications/*pathology ; Humans ; Infant, Newborn ; Jaundice, Neonatal/complications/pathology ; Liver Diseases/congenital/pathology ; Male

OBJECTIVETo clarify whether neonatal jaundice may cause myocardial damage to term infants with normal birth weight (BW).

METHODSTotally 178 term neonates admitted during March, 2004 to December, 2010 with normal BW were enrolled. Infants with antenatal or neonatal asphyxia, temperature abnormality, septicemia, antenatal viral infection, congenital dysmorphia, congenital heart disease, 21-trisomy, and polycythemia were excluded. There was no maternal complications during the pregnancy. Serum total bilirubin (TB), creatine kinase (CK), MB isoenzymes of creatine kinase (CK-MB), and cardiac troponin-I (cTnI) were measured. Patients with transcutaneous bilirubin level (TcB) ≥ 342 µmol/L (20 mg/dl) were in Group A (n = 32), and those with TcB below phototherapy level at matched time point were in Group B (n = 25). ECG, for correct Q-T intervals (QTc) and correct QT intervals dispersion (QTcd), and ECHO, for left ventricular ejection fraction (EF), the ratio of the peak velocity of early stage and advanced stage of diastolic phase at the mitral orifice (E/A), were applied to patients in Group A and B. SPSS 13.0 software was used for the data analysis. The coefficients of correlation among age in hours on admission (hr), TB, CK, CK-MB, CK-MB/CK, and cTnI were studied by multiple and partial correlation analysis. Data in Group A and B were compared by independent-samples Mann-Whitney U test (nonparametric method) or Student t-test.

RESULTSWhen the data were analyzed by multiple correlation, there were significant correlation between TB and cTnI, CK-MB, respectively (r = 0.212, -0.161, respectively, all P < 0.05). But, when the data were analyzed by partial correlation, there was no correlation between TB and cTnI, CK-MB, respectively (r' = 0.112, -0.112, respectively, all P > 0.05), negative correlation between hr and TB, cTnI, respectively (r' = -0.490, P = 0.000; r' = -0.162, P = 0.032). There was no significant difference in CK (Z = -1.384, P = 0.166), CK-MB (Z = -0.821, P = 0.412), cTnI (Z = -1.159, P = 0.246), QTc (t = 1.146, P = 0.257), QTcd (t = 1.342, P = 0.185), EF (t = 1.558, P = 0.125), E/A (t = -0.640, P = 0.525) between group A and B. There was significant difference in CK-MB/CK (Z = -3.187, P = 0.001) between group A and B with a lower value in group A [0.075 (0.032 - 0.102)] comparing to that in group B [0.160 (0.073 - 0.284)].

CONCLUSIONThere is no sufficient evidence to support the hypothesis that neonatal jaundice may induce myocardial damage in normal birth weight term infants.

Bilirubin ; blood ; Creatine Kinase ; blood ; Creatine Kinase, MB Form ; blood ; Electrocardiography ; Female ; Humans ; Infant, Newborn ; Jaundice, Neonatal ; blood ; complications ; Male ; Myocardium ; pathology ; Term Birth ; Troponin I ; blood ; Ultrasonography, Doppler, Color