NEONATAL HEMOCHROMATOSIS - REPORT OF A PATIENT WITH FAVORABLE OUTCOME

A male newborn was referred on the 2nd day of life because of suspecte d sepsis. The child became comatose and ventilator dependent owing to progressive hepatic failure with hyperammonaemia. Diagnostic studies r evealed an highly elevated ferritin level. The family history was rema rkable in that an aunt and a great aunt on his mother's side have idio pathic haemochromatosis. Open liver biopsy showed advanced cirrhosis w ith cholestasis and excessive hepatocellular siderosis. Concentrations of iron in liver tissue were highly elevated. The child's status impr oved unexpectedly, and excretory and synthetic liver function graduall y returned to normal. Conclusion Neonatal haemochromatosis is not an i rreversible disease of iron metabolism but rather a distinct outcome o f fetal liver disease which predisposes by an yet unknown mechanism to a derangement of fetoplacental iron handling. If patients survive the initial phase of liver failure, prognosis is largely dependent upon l iver cirrhosis and its sequels. The iron overload in this type of haem ochromatosis is reversible and not progressive.