[Neonatal hemochromatosis. Report of 3 autopsy cases]

Abstract

Introduction: Neonatal hemochromatosis is a disease that starts in utero, characterized by severe fibrosis or cirrhosis and siderosis of the liver and other organs without affecting the mononuclear fagocytic system. The most important clinical features are severe hepatic failure at birth and hypoglycemia. The diagnosis is made excluding other diseases more frequently seen in the neonatal period and with at least two of the clinicopathologic criteria delineated by Knisely.

Methods: A retrospective analysis of the autopsies of newborn done at the Department of Pathology of the Hospital de Pediatría, C.M.N. SXXI, IMSS, a tertiary care facility in the period 1989 from 1997. Those cases with primarily hepatic disease as the main diagnosis were chosen. The degree of siderosis was determined cualitatively. The amount of Fe and copper in the liver and spleen in samples fixed in formalin was obtained using X ray fluorescence in the Instituto Nacional de Investigaciones Nucleares, two control cases were also tested.

Results: Only four out of 210 autopsies of newborn babies were found to have hepatic disease as a main diagnosis but without an etiology determined. In three of such cases the diagnosis of neonatal hemochromatosis was made. All patients were male with ages six, 29 and 36 days, one with Down's syndrome. The ratio of iron deposits in liver/spleen in hemochromatosis' cases was higher to 1.5 in the liver in contrast to the two control cases.

Conclusions: These cases showed the utility of the autopsy in establishing the adequate diagnosis in three cases of neonatal hemochromatosis. The importance of establishing an accurate diagnosis is to recognize it as an entity with a lethal course, that can be potentially managed with liver transplant as well as genetic counseling to the family. A remarkable finding in the study of these cases was the ratio of iron concentration in the liver and spleen that allowed to discard other causes of siderosis. To our knowledge this finding has never been recorded.