Paediatric Imaging

Haemochromatosis

an inborn error of metabolism in which excessive iron is deposited in many organs, particularly the liver. This leads to progressive hepatocellular damage and ultimately cirrhosis. Affected children may have an abnormal bronze skin pigmentation and are at risk of developing diabetes mellitus because of pancreatic damage. There is an increased incidence of hepatocellular carcinoma.

Ultrasound of the liver may be normal, though may show increased parenchymal echogenicity if fibrosis or cirrhosis are present. Unenhanced CT of the liver may show increased attenuation of liver parenchyma because of abnormally high tissue iron concentrations. This is not specific and may also be present in haemosiderosis and in patients on long term amioderone therapy.

Complications of cirrhosis may be identified by ultrasound or CT and MRI, as may the presence of a hepatocellular carcinoma. Also, see haemochromatosis.

DG