Neonatal haemochromatosis associated with Down syndrome

Methodology: The clinical course of a child with neonatal haemochromatosis associated with Down syndrome is described, using case notes and post-modem examination. Results: The patient died of liver failure on day 36. Post-mortem examination showed siderosis of liver, pancreas, heart, kidney and thyroid. Conclusions: Neonatal haemochromatosis is a rare paediatric disease, the aetiology of which is unknown. Evidence suggests a disorder of fetoplacental iron handling with implications for recurrence in future pregnancies.