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

Arch Otolaryngol Head Neck Surg. 2004;130:760-763.

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.

From the Departments of Otolaryngology (Drs Smith and Rothschild), Pediatrics, Divisions of Pediatric Hepatology (Drs Shneider and Martin) and Neonatology (Dr Martin), and Pathology (Dr Magid), Mount Sinai School of Medicine, New York, NY. The authors have no relevant financial interest in this article.