title: 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.
abstract: We report on a female preterm infant with hepatic failure and neonatal tissue siderosis of hemochromatotic type diagnosed by using both histochemistry and atomic absorption spectroscopy. The infant presented with meconium ileus, signs of rapidly progressive hepatic failure, and hyperferritinemia (7132 ng/ml). Despite surgery and intensive care the infant died 32 days after birth. Postmortem examination showed a wrinkled liver with extensive collapse of the hepatic architecture and regenerating nodules as well as hepatic and extrahepatic iron accumulation of hemochromatotic type, sparing the reticuloendothelial system. Atomic absorption spectroscopy confirmed an increase in the iron content of various organs: liver, heart, pancreas, oral salivary gland, kidney, and adrenal gland. The increase in the iron content of various organs was determined by comparing the analysis of the propositus with those of 5 gestationally age-related preterm infants who had died in the intensive care unit: 2 died of meconium aspiration syndrome, the other 3 of hyaline membrane disease, bronchopulmonary dysplasia, and immaturity, respectively. We also compared the analysis of 15 fetuses having a a condition predisposing to iron accumulation (trisomy 21, trisomy 18, cytomegalovirus, amnion infection syndrome, Rhesus- and ABO-incompatibility, congenital hemolysis, anti-phospholipid syndrome, congenital heart disease). Delta F508, the most frequent mutation seen in cystic fibrosis patients, was excluded by gene sequencing. Different noxae causing iron accumulation in the neonatal period have led to the statement that neonatal hemochromatosis may collect different etiologies, 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.
authors.affiliation: Institute of Pathology, Department of Neonatology, University of Heidelberg, Germany. Consolato_Sergi@med.uni-heidelberg.de
authors.forename: C
authors.initials: C
authors.lastname: Sergi
authors.forename: U
authors.initials: U
authors.lastname: Himbert
authors.forename: F
authors.initials: F
authors.lastname: Weinhardt
authors.forename: W
authors.initials: W
authors.lastname: Heilmann
authors.forename: P
authors.initials: P
authors.lastname: Meyer
authors.forename: B
authors.initials: B
authors.lastname: Beedgen
authors.forename: E
authors.initials: E
authors.lastname: Zilow
authors.forename: W J
authors.initials: WJ
authors.lastname: Hofmann
authors.forename: O
authors.initials: O
authors.lastname: Linderkamp
authors.forename: H F
authors.initials: HF
authors.lastname: Otto
mesh_terms: D004247:DNA / Q000032:analysis; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005260:Female; D006432:Hemochromatosis / Q000150:complications / Q000378:metabolism / Q000473:pathology*; D006651:Histocytochemistry; D006801:Humans; D007231:Infant, Newborn; D007415:Intestinal Obstruction / Q000150:complications / Q000151:congenital*; D007501:Iron / Q000032:analysis / Q000378:metabolism; D017093:Liver Failure / Q000209:etiology / Q000378:metabolism / Q000473:pathology*; D008470:Meconium; D011540:Prussian Blue Reaction; D012806:Siderosis / Q000150:complications / Q000378:metabolism / Q000473:pathology*; D013054:Spectrophotometry, Atomic
chemical_list: D004247:DNA; D007501:Iron