FaCD Online Syndrome Fact Sheet

Last updated: 02 Jul 2008

Name: Neonatal Giant Cell Hepatitis

Synonym: Neonatal Hemochromatosis

Mode of Inheritance: AR

OMIM number: 231100  

Genes

CYP7A1, mapped to 8q11-q12

Tumor features (possible)

hepatocellular cancer (hepatoma)

Non-tumor features

liver cirrhosis
liver failure

Comment

This is probably a heterogeneous group of disorders which all share a rapidly progressive hemochromatosis with death in utero or neonatal death in many of the affected patients[1]. Iron deposition in multiple organs, including the liver, occurs. A deficiency of the enzyme 3-beta-hydroxy-delta(5)-C(27)-steroid dehydrogenase/isomerase has been observed in a few cases. Other enzymes that are involved are delta(4)-3-oxysteroid 5-beta reductase and oxysterol 7-alpha-hydroxylase(CYP7A1).
Primary hepatic cancer has been observed in a few cases[2,3].

References

[1] Knisely AS, Magid MS, Dische MR, Cutz E. Neonatal hemochromatosis. Birth Defects 1987; 23(1):75-102.
[2] Moore L, Bourne AJ, Moore DJ, Preston H, Byard RW. Hepatocellular carcinoma following neonatal hepatitis. Pediatric pathology & laboratory medicine 1997 Jul-Aug; 17(4):601-10.
[3] Sándor T, Surinya M, Mónus Z. Familial occurrence of giant cell hepatitis in infancy. Acta hepato-gastroenterologica 1976; 23(2):101-4.