In neonatal hemochromatosis (NH) there is extensive hepatic injury due to alloimmune maternal antibodies (gestational alloimmune liver disease or GALD). This results in siderosis with iron deposition in many organs, including salivary glands. Biopsy of a minor salivary gland can be helpful in making the diagnosis.
Patient selection: neonate with acute hepatic failure
A biopsy from the labial surface of the lower lip can be performed under local anesthesia and can be performed despite severe coagulopathy. If possible the surgeon should be an oral surgeon or otolaryngologist experienced in collecting mucosal samples for minor salivary glands. Smith et al recommend performing a frozen section on the specimen to confirm the presence of salivary gland tissue just in case a second or third biopsy is needed.
While a liver biopsy can be performed if there is adequate coagulation, the presence of hemosiderin within hepatocytes is not specific (although the diagnosis can be suspected if Kupffer cells are negative for iron).
An iron stain is performed to demonstrate intracellular iron.
The presence of hemosiderin with acinar cells of a minor salivary gland is evidence of neonatal hemochromatosis.
The absence of hemosiderin does not exclude gestational alloimmune liver disease (GALD) since some cases can occur without siderosis.
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