Prenatal diagnosis of neonatal hemochromatosis: it is possible?

  • Helena Isabel Lopes Obstetrics / Gynecology Department of Centro Materno Infantil do Norte, Centr Hospitalar do Porto
  • Ana Luísa Montes Prenatal Diagnosis Unit of Obstetrics Service , Centro Hospitalar Vila Nova de Gaia/Espinho
  • Mariana Veiga Novais Prenatal Diagnosis Unit of Obstetrics Service , Centro Hospitalar Vila Nova de Gaia/Espinho
  • Otília Brandão Pathology Development Unit of Anatomy Pathological Service, Centro Hospitalar São João
  • Francisco Valente Prenatal Diagnosis Unit of Obstetrics Service , Centro Hospitalar Vila Nova de Gaia/Espinho
Keywords: fetal ultrasonography, prenatal diagnosis, neonatal hemochromatosis

Abstract

Introduction: Neonatal Hemochromatosis is a rare liver disease of intrauterine onset, defined by neonatal liver failure associated with extrahepatic siderosis. Gestational alloimmune liver disease has been established as the cause of fetal liver injury. At present, there is no effective approach to prenatal diagnosis.

Case Report: A 23-year-old pregnant woman presented at 32 weeks of gestation with oligohydramnios and hyperechogenic liver focus on ultrasound. The premature newborn developed multisystem organ failure and died at the second day of life despite aggressive support care. The autopsy allowed the diagnosis of Neonatal Hemochromatosis.

Conclusion: The ultrasound identification of hyperechogenic nodular focus on fetal liver may be suggestive of Neonatal Hemochromatosis. Further investigations are needed to identify the specific alloimmune complex in maternal blood. Establishment of the diagnosis in an affected fetus or newborn may have a major impact for the prognosis of disease and for the outcome of future pregnancies.

References

Knisely AS, Mieli-Vergani G, Whitington PF. Neonatal Hemochromatosis. Gastroenterol Clin North Am. 2003:32:877-89.

Whitington P. Neonatal Hemochromatosis: A Congenital Alloimmune Hepatitis. Sem Liv Dis. 2007:27:243-50.

Costaguta A, Alvarez F. The new paradigm of neonatal hemochromatosis: fetal alloimmune hepatitis. Arch Argent Pediatr. 2012; 110(3):237-43.

Whitington P. Fetal and infantile hemochromatosis. Hepatology. 2006:43:654-60 .

Whitington PF. Gestational alloimmune liver disease and neonatal hemochromatosis. Semin Liver Dis. 2012:32(4):325-32.

Pan X, Kelly S, Melin-Aldana H, Malladi P, Whitington PF. Novel mechanism of fetal hepatocyte injury in congenital alloimmune hepatitis involves the terminal complement cascade. Hepatology. 2010; 51(6):2061-8.

Bonilla S, Prozialeck JD, Malladi P, Pan X, Yu S, Melin-Aldana H, Whitington PF. Neonatal iron overload and tissue siderosis due to gestational alloimmune liver disease. J Hepatol. 2012:56(6):1351-5.

Shneider BL. Genetic counseling in neonatal hemochromatosis. J Pediatr Gastroenterol Nutr. 2002:34:328.

Whitington PF, Mallad P. Neonatal hemochromatosis: is it an alloimmune disease? J Pediatr Gastroenterol Nutr. 2005:40:544-9.

Whitington PF, Kelly S. Outcome of Pregnancies at Risk For Neonatal Hemochromatosis Is Improved by Treatment With High-Dose Intravenous Immunoglobulin. Pediatrics. 2008; 121:1615-21.

Achiron R, Seidman S, Afek A, Malinger G, Lipitz S, Mashiach S, et al. Prenatal ultrasonographic diagnosis of fetal hepatic hyperechogenicities: clinical significance and implications for management. Ultrasound Obstet Gynecol. 1996:7:251-5.

Skaife T, Callen P, Coakley F. Prenatal sonographic findings in fetal cirrhosis secondary to hemochromatosis. J Ultrasound Med. 2000:19:285-8.

Williams H, Mc Kiernan P, Kelly D, Baumann U. Magnetic resonance imaging in neonatal hemochromatosis. Are we there yet? Liver Transpl. 2006:12:1725.

Bonilla SF, Melin-Aldana H, Whitington PF. Relationship of proximal renal tubular dysgenesis and fetal liver injury in neonatal hemochromatosis. Pediatr Res. 2010: 67(2):188-93.

Published
2015-06-15
How to Cite
Lopes, H. I., Montes, A. L., Novais, M. V., Brandão, O., & Valente, F. (2015). Prenatal diagnosis of neonatal hemochromatosis: it is possible?. NASCER E CRESCER - BIRTH AND GROWTH MEDICAL JOURNAL, 24(2), 88-90. https://doi.org/10.25753/BirthGrowthMJ.v24.i2.8566
Section
Case Reports