Pediatr Gastroenterol Hepatol Nutr.  2016 Jun;19(2):147-151. 10.5223/pghn.2016.19.2.147.

Living Related Liver Transplantation in an Infant with Neonatal Hemochromatosis

• Choi SJ
• Choi JS
• Chun P
• Yoo JK
• Moon JS
• Ko JS
• Kim WS
• Kang GH
• Yi NJ

• KMID: 2328177
• DOI: http://doi.org/10.5223/pghn.2016.19.2.147

Abstract

Neonatal hemochromatosis (NH) is a severe neonatal liver injury that is confirmed by extra-hepatic iron accumulation. Although a recent study described treating NH with exchange transfusions and intravenous immunoglobulin, liver transplantation should be considered for patients with severe liver failure that does not respond to other medical treatment. Herein, we report the case of a two-month-old female infant who presented with persistent ascites and hyperbilirubinemia. Her laboratory findings demonstrated severe coagulopathy, high indirect and direct bilirubin levels, and high ferritin levels. Abdominal magnetic resonance imaging presented low signal intensity in the liver on T2-weighted images, suggesting iron deposition. The infant was diagnosed with NH as a result of the clinical findings and after congenital infection and metabolic diseases were excluded. The infant was successfully treated with a living-donor liver transplantation. Living related liver transplantation should be considered as a treatment option for NH in infants.

Keyword

Neonatal hemochromatosis; Gestational alloimmune disease; Liver failure; Liver transplantation

MeSH Terms

Ascites
Bilirubin
Female
Ferritins
Hemochromatosis*
Humans
Hyperbilirubinemia
Immunoglobulins
Infant*
Iron
Liver Failure
Liver Transplantation*
Liver*
Magnetic Resonance Imaging
Metabolic Diseases
Bilirubin
Ferritins
Immunoglobulins
Iron

Figure

• 

  Fig. 1 Abdominal magnetic resonance imaging T2-weighted image demonstrated diffuse heterogeneous low signal intensity in the liver, suggesting siderosis.

• 

  Fig. 2 (A) Histopathological studies revealed diffuse parenchymal collapse and occasional nodular regeneration (H&E, ×100), and (B) diffuse iron deposition in the liver with iron staining (×400).

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