Abstract :
[en] Background. Fetal liver disease is a rare antenatal disorder for which etiology is frequently unknown.
Recently, congenital alloimmune hepatitis emerged as a major cause of antenatal liver disease. Its
typical presentation can be as a severe neonatal liver failure with hepatic and extrahepatic iron
overload, a clinical state called neonatal hemochromatosis.
Methods. A pregnant woman was investigated for heterogeneous fetal hepatomegaly. Pregnancy was
also complicated by fetal alloimmune thrombocytopenia. The newborn presented at birth with liver
cirrhosis and mild liver dysfunction. Follow-up until 36 months showed progressive normalization of all
liver parameters. All metabolic and infectious analyses were negative. Liver biopsy showed severe
hepatitis with post-necrotic fibrosis and regenerative nodules. There was no iron overload. To search
for immune injury, paraffine sections of the liver biopsy were stained with an antibody against the
membrane attack complex (MAC, anti human c5b-9, Peter Whitington’s Lab, Children’s Memorial
Hospital, Chicago, IL), the terminal complement cascade neoantigen occurring specifically in
complement activation by the IgG-mediated classical pathway, and which is responsible for cell death.
Results. Strong immunostaining against MAC-antigen was found in the liver of the patient, with 90%
of target hepatocytes whereas in a control group of patients with other neonatal liver diseases, it was
10.8±12.5%. Because IgG in neonates originate only from the mother, it signs the alloimmune nature
of the disease.
Conclusion. For a long time, pathophysiology of neonatal hemochromatosis remained unsolved.
Recently, it was elucidated as congenital alloimmune hepatitis. With this case, we expend the
recognized clinical spectrum by showing that congenital alloimmune hepatitis can present as milder
cases, without iron overload. It should be considered as a cause of unexplained neonatal liver
disease, even in the absence of siderosis. Such diagnosis is of great importance regarding the
necessity of immunotherapy in further pregnancies in order to avoid recurrence of alloimmune injury
