Minor Salivary Gland Biopsy in Neonatal Hemochromatosis

Abstract

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.

Beta Thalassemia Presenting with Neonatal Cholestasis and Extensive Hemosiderosis: A Case Report

“…Ultimately, the less acute progression of the liver dysfunction, buccal biopsy results, and MRI findings confirmed the exclusion of this diagnosis. The reported positive rate of buccal salivary biopsy in GALD by Smith et al 16) was 85.7%; however, the biopsy in this case was negative.…”

Relevance of C5b9 immunostaining in the diagnosis of neonatal hemochromatosis

“…Combination of ferritin level and liver failure is not sufficient to detect NH (52)(53)(54). Autopsy allows the detection of extrahepatic iron overload which is not limited to pancreas and oral mucosal salivary glands (23,(55)(56)(57). In our series, iron overload in salivary glands was only seen in 1/5 and T2 sequence MRI showed pancreatic hyposignal in 2/9.…”

Twin-to-twin transfusion syndrome as a cause of neonatal acute liver failure

“…It can be confirmed only by the evidence of extrahepatic deposits sparing the reticuloendothelial system. In the study by Smith et al, a biopsy of salivary glands of the lips demonstrated hemosiderin accumulation within the epithelial cells of six of seven neonates with NH [10]. From the description of NH earlier, it is less likely that this patient has NH due to very high levels of aminotransferase and ferritin.…”