Article Text

  1. S Soares1,
  2. M J Silva1,
  3. M Sampaio1,
  4. S Pissarra1,
  5. G Vasconcelos1,
  6. M L Cardoso2,
  7. O Brandao3,
  8. H Guimaraes4,
  9. E Leao-Teles5,
  10. E Rodrigues5
  1. 1Neonatal Intensive Care Unit, Hospital S. João, Porto, Portugal,
  2. 2Medical Genetics Institute Prof. Jacinto Magalhães, Porto, Portugal,
  3. 3Pathology Department, Hospital de S. João, Porto, Portugal,
  4. 4Faculty of Medicine, The University of Porto, Porto, Portugal,
  5. 5Metabolic Diseases Unit, Hospital S. João, Porto, Portugal


Neonatal hemochromatosis is a rare disease of probable alloimmune etiology marked by severe hepatic dysfunction associated with intra and extra-hepatic siderosis, occuring in utero or in the early neonatal period. Its outcome is often fatal.

Case report 1 Male preterm newborn admitted to the Neonatal Intensive Care Unit for non-immune fetal hydropsia. Complementary studies excluded congenital infections, cardiac structural disease and numerical chromosomal abnormalities. Analitically, he presented anemia, coagulopathy, hypoalbuminemia and limited hepatic cytolisis. The evolution was adverse with death due to multiorgan failure on day 27.

Case report 2 Male term newborn, LGA, second child of consanguineous parents, transferred to our unit on day 7 for reccurent hypoglicemia since birth. From admission, this patient was severely ill, hyporreactive, jaundiced, with anasarca. Complementary studies showed refractory metabolic acidosis, hyperlactacidemia, anemia and thrombocytopenia as well as other markers of organ failure, namely hepatic, with severe coagulopathy and hypoalbuminemia, cholestasis and limited cytolisis. Abdominal MRI suggested hepatic deposits of iron. Mytochondrial respiratory chain enzymatic study was normal. Progressive organ involvement resulted in death on day 41.

In both patients, post-mortem studies depicted severe hepatic parenchymal lesion and multisystemic deposition of iron, suggesting the diagnosis of neonatal hemochromatosis.

Although this diagnosis is often established through anatomo-pathological findings, the authors intend to highlight the consideration of neonatal hemochromatosis as a differential diagnosis for non-immune fetal hydropsia, especially when accompanied with hepatic disease of prenatal or early neonatal presentation. Therapeutic options are still scarce, but transplantation may soon become a customary option.

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