Neonatal Hemochromatosis: A Rare Cause of Nonimmune Hydrops fetalis and Fetal Anemia

Abstract

Neonatal hemochromatosis is a rare inherited disorder of iron metabolism in which various tissues contain excessive amounts of iron. Only in a very few cases in which the disease is associated with fetal nonimmune hydrops is there the possibility for prenatal diagnosis. We present a case of fetal nonimmune hydrops fetalis in which severe fetal anemia and elevated liver enzymes were found. Retrospectively, according to pathological examination, these were signs of neonatal hemochromatosis. Only the knowledge of the disease entity allows antenatal diagnosis and rational perinatal management.

Hemochromatosis associated with cholelithiasis as a cause of hydrops fetalis and stillbirth: Prenatal diagnosis

“…The prenatal diagnosis may be raised, similarly as in our case, in front of hepatic abnormalities, especially fetal hepatomegaly and heterogeneous or multinodular liver architecture. Ascites or nonimmune hydrops fetalis, which are related to cirrhosis and anemia, may be detected on fetal imaging as shown in this report and in few previously published cases . Other nonspecific abnormalities are reported including intrauterine growth restriction and oligohydramnios, or polyhydramnios .…”

“…Ascites or nonimmune hydrops fetalis, which are related to cirrhosis and anemia, may be detected on fetal imaging as shown in this report and in few previously published cases. [7][8][9] Other nonspecific abnormalities are reported including intrauterine growth restriction and oligohydramnios, or polyhydramnios. 10 Ultrasound detected oligohydramnios in our case, that resulted in Potter's facies.…”

Familial perinatal hemochromatosis: A disease that causes recurrent non-immune hydrops

“…Post mortem Brought to you by | NDSU Library Periodicals Authenticated Download Date | 5/24/15 10:54 PM PH presenting symptoms are nonspecific, and generally reflect multisystem failure [14], including hydrops, especially recurrent non-immune hydrops as several authors [1, 2, 10, 18,25,27,28] have reported. Post mortem Brought to you by | NDSU Library Periodicals Authenticated Download Date | 5/24/15 10:54 PM PH presenting symptoms are nonspecific, and generally reflect multisystem failure [14], including hydrops, especially recurrent non-immune hydrops as several authors [1, 2, 10, 18,25,27,28] have reported.…”

Pathology of Pediatric Gastrointestinal and Liver Disease

“…Neonatal hemochromatosis is a clinical syndrome in which severe fetal liver injury causes iron overload due to poor regulation of maternofetal iron fl ux. It has also been reported in fetal hydrops and stillbirths (Wisser et al 1993 ). This entity is discussed here because it typically presents clinically as ALF at birth or shortly afterwards.…”