Hepatic failure with neonatal tissue siderosis of hemochromatotic type in an infant presenting with meconium ileus - Case report and differential diagnosis of the perinatal iron storage disorders

We report on a female preterm infant with hepatic failure and neonatal tiss ue siderosis of hemochromatotic type diagnosed by using both histochemistry and atomic absorption spectroscopy. The infant presented with meconium ile us, signs of rapidly progressive hepatic failure, and hyperferritinemia (71 32 ng/ml). Despite surgery and intensive care the infant died 32 days after birth. Postmortem examination showed a wrinkled liver with extensive collapse of t he hepatic architecture and regenerating nodules as well as hepatic and ext rahepatic iron accumulation of hemochromatotic type, sparing the reticuloen dothelial system. Atomic absorption spectroscopy confirmed an increase in t he iron content of various organs: liver, heart, pancreas, oral salivary gl and, kidney, and adrenal gland. The increase in the iron content of various organs was determined by comparing the analysis of the propositus with tho se of 5 gestationally age-related preterm infants who had died in the inten sive care unit: 2 died of meconium aspiration syndrome, the other 3 of hyal ine membrane disease, bronchopulmonary dysplasia, and immaturity, respectiv ely. We also compared the analysis of 15 fetuses having a a condition predi sposing to iron accumulation (trisomy 21, trisomy 18, cytomegalovirus, amni on infection syndrome, Rhesus- and ABO-incompatibility, congenital hemolysi s, anti-phospholipid syndrome, congenital heart disease). Delta F508, the m ost frequent mutation seen in cystic fibrosis patients, was excluded by gen e sequencing. Different noxae causing iron accumulation in the neonatal period have led t o the statement that neonatal hemochromatosis may collect different etiolog ies, such as metabolic disorders, infections, chromosomal aberrations, and immunological disorders. In this study, we report the singular evidence of neonatal iron accumulation of hemochromatotic type in an infant presenting with meconium ileus and propose a classification of the neonatal disorders associated with iron accumulation.