Neonatal hemochromatosis is an uncommon disorder, clinicopathologically defined by severe and generally fatal liver disease of intrauterine onset associated with extrahepatic siderosis that spares reticuloendothelial elements (hemochromatotic siderosis).

Etiology

 fetal alloimmunization (#15861012#)

• maternal lupus antibodies
• maternal autoantibodies against Ro/SS-A and La/SS-B ribonucleoproteins (#8213678#)

 fetal bacterial infections
 fetal viral infections

• fetal CMV infections (#1325409#)

 undefined familial condition with autosomal recessive inheritance, mitochondrial inheritance, or due to gonadal mosaicism

 trisomy 21

• acute myeloproliferative disease

Associations

 multiple malformations (#8010353#)
 delta 4-3-oxosteroid 5 beta-reductase deficiency (#8301429#)

 infectious diseases

• fetal CMV infection
• amnion infection syndrome

 chromosomal anomalies

• trisomy 18
• trisomy 21
  • Down syndrome-associated neonatal transitory myelodysplasia (#7669389#)

 cardiovascular anomalies

• cardiac malformations

 hematological anomalies

• Rhesus-incompatibility
• ABO-incompatibility
• congenital hemolysis
• anti-phospholipid syndrome

 digestive anomalies

• duodenal atresia (#7758532#)
• meconial ileus (#11700892#)

 miscellaneous

• renal tubular dysgenesis (#14677054#, #9688768#, #8066004#)
• hypocalvaria (#9688768#)
• congenital generalized infantile myofibromatosis (#11196755#)
• hemophagocytic syndrome (#10347280#)

See also

 acute hepatic failure

References

 Whitington PF, Malladi P. Neonatal hemochromatosis: is it an alloimmune disease? J Pediatr Gastroenterol Nutr. 2005 May;40(5):544-9. PMID: #15861012#

 Goyal R, Pattari SK, Kakkar N, Radotra BD, Narang A. Neonatal hemochromatosis with massive hepatic necrosis. Fetal Pediatr Pathol. 2004 Sep-Dec;23(5-6):345-50. PMID: #16137172#

 Knisely AS, Mieli-Vergani G, Whitington PF. Neonatal hemochromatosis. Gastroenterol Clin North Am. 2003 Sep;32(3):877-89, vi-vii. PMID: #14562579#

 Murray KF, Kowdley KV. Neonatal hemochromatosis. Pediatrics. 2001 Oct;108(4):960-4. PMID: #11581451#