Minor salivary gland biopsy in neonatal hemochromatosis

Shane R. Smith, Benjamin L. Shneider, Margret Magid, Gregory Martin, Michael Rothschild

Research output: Contribution to journalArticlepeer-review

44 Scopus citations


Background: Neonatal hemochromatosis (NH), a rare disorder seen in newborns, is defined as liver failure with extrahepatic iron deposition that spares the reticuloendothelial elements. This disorder is considered the pathologic end point of a variety of diseases that result in prenatal liver failure, and mortality without aggressive treatment is common. However, ready diagnosis remains a problem. A liver biopsy specimen showing siderosis is not specific for hemochromatosis and may be risky in patients with coagulopathy. Objective: To describe a safe and effective method for diagnosing NH that uses lower-lip minor salivary gland biopsy and can be readily performed even in the most severe cases of coagulopathy under local anesthesia. Methods: Eleven neonates with suspected NH were identified. After informed consent, a biopsy specimen of lower-lip tissue was taken under local anesthesia by the otolaryngology team. Results: Ten of the 11 neonates had minor salivary gland tissue present (or detected) by initial frozen-section analysis. One of the 11 patients required a second biopsy owing to a lack of sufficient minor salivary gland tissue on the initial specimen, underscoring the importance of frozen-section analysis. Six of 7 neonates with NH had positive biopsy findings and the seventh had a false negative. There were 4 true negatives. Three of 7 children with NH survived, 1 requiring liver transplantation and 2 with medical treatment only. Conclusion: Minor salivary gland biopsy is a safe and effective way to quickly diagnose NH, a rapidly progressive, often fatal condition.

Original languageEnglish
Pages (from-to)760-763
Number of pages4
JournalArchives of Otolaryngology - Head and Neck Surgery
Issue number6
StatePublished - Jun 2004


Dive into the research topics of 'Minor salivary gland biopsy in neonatal hemochromatosis'. Together they form a unique fingerprint.

Cite this