neonatal hemochromatosis; neonatal giant cell hepatitis

Epidemiology

rare

Pathology

• hepatic failure in the newborn period
• heavy iron staining in the liver
• hepatitis with giant cells
• siderosis of extrahepatic tissues
  • liver, pancreas, heart, endocrine glands
• extrahepatic reticuloendothelial system relatively unaffected

Genetics

• autosomal recessive
• mutations in the CYP7B1 gene

Clinical manifestations

• rapidly progressive clinical course with death in utero or in the early neonatal period
• no hemolytic disease, hemosiderosis, or iron overload from blood transfusions
• hemorrhage
• fatal renal & hepatic failure

Laboratory

• serum glucose (hypoglycemia)

More general terms

• hemochromatosis
• neonatal disorder or disease

Additional terms

• cytochrome P450 7B1 (CYP7B1, oxysterol 7-alpha-hydroxylase)

Database

• OMIM: https://mirror.omim.org/entry/231100