Neonatal hemochromatosis: diagnosis with MR imaging.

Abstract

Neonatal hemochromatosis, also known as peninatal hemochromatosis or neonatal iron storage disease, is characterized by severe and usually fatal idiopathic liver disease of intrauterine onset. It may occur in siblings. Its hallmark is fulminant hepatic failure with siderosis of hepatocytes and of extrahepatic parenchymal cells at a variety of sites (pancreas, myocamdium, thyroid gland, oral mucosa), with sparing of reticuloendothelial cells in the spleen, lymph nodes, and bone marrow [i ]. Extrahepatic sidemosis in this distribution is not seen in infants with liver disease of postnatal onset on in infants who do not have liver disease [2]. Neonatal hemochromatosis is not a variant presentation of human leukocyte antigen-linked (adult onset, hereditary) hemochnomatosis [3] and the two entities differ in many respects [1]. The antemortem diagnosis of neonatal hemochnomatosis is difficult, because neonatal liver failure may be associated with many disorders. Nonetheless, it is important to establish the diagnosis clinically. If it is recognized, plans for liver transplantation, the only effective therapy, can proceed. When neonatal hemochromatosis is suspected, liver biopsy may be hazardous owing to coagulopathy and the poor overall status of the patient. Oral mucosal biopsy, to demonstrate stainable iron in the small submucous glands of the lip, cheek, or tongue [4], has been an alternative in several instances [1 ], but it also is invasive. We hypothesized that MR imaging would be a noninvasive technique for diagnosis of neonatal hemochromatosis if signal intensity could be used to detect tissue iron overload [5]. This report presents our findings with MR imaging in three neonates with neonatal hemochnomatosis and a fetus whose family history indicated the fetus to be at risk for neonatal hemochromatosis.