Presentations may include:
(1) intrauterine fetal demise
(2) acute hepatic failure as a neonate or during early infancy
(3) subacute liver disease progressing to cirrhosis
(4) neonatal cirrhosis
The mother may have a sibling with an affected infant or a personal history of a previously affected infant.
A neonate with acute hepatic failure may show:
(1) jaundice
(2) coagulopathy
(3) elevated ALT
(4) high serum ferritin
(5) elevated iron saturation
Multi-organ failure often develops and is the immediate cause of death.
MRI can demonstrate the presence of iron deposition in various organs in patients with NH.
The hallmark of NH is siderosis in hepatocytes and various organs AND absence of iron in the reticuloendothelial cells (Kupffer cells, etc).
Not all patients with GALD develop siderosis. Diagnosis in these patients can be difficult. A liver biopsy will show strong staining of hepatocytes with immunostaiins to the C5b-C9 complex (terminal complement cascade).
