Hepatic Gaucheroma mimicking focal nodular hyperplasia #

A 23-year-old man was referred to the hospital because of weakness, bone pain, and fatigue. Physical examination showed a marked hepatomegaly. His hemoglobin level was 133 g/L (normal < 140 g/L) and liver aminotransferases were moderately elevated (aspartate aminotransferase was 63 U/L [normal < 35] and alanine aminotransferase was 60 U/L [normal < 45]). Ultrasound of the abdomen showed hepatomegaly with a hyperechoic mass (7.4 cm × 7.3 cm × 9.0 cm) adjacent to the left liver lobe, requiring further work-up. Liver magnetic resonance imaging (MRI) demonstrated a well-delineated mass, which appeared hyperintense in comparison to the adjacent liver parenchyma on T2-weighted images (Fig. 1). A central hypointense scar was detected, suggestive of focal nodular hyperplasia (FNH). At the age of 5 years, splenomegaly had been diagnosed and subsequent splenectomy had shown Gaucher cells. Here, the diagnosis of Gaucher disease was confirmed by diminished blood β-glucocerebrosidase activity and increased plasma chitotriosidase. Magnetic resonance imaging: Axial T2-weighted MRI of the upper abdomen showing a hyperintense mass (white arrows) adjacent to the left liver lobe in a patient with Gaucher disease who underwent splenectomy. A central hypointense scar (white arrowhead) within the mass suggests FNH. FNH, focal nodular hyperplasia; HCC, hepatocellular carcinoma; MRI, magnetic resonance imaging. An ultrasound-guided fine-needle biopsy showed an extensive accumulation of Gaucher cells within liver sinusoids (Fig. 2). There was no histological evidence of FNH or malignancy, and hepatic Gaucheroma (Gaucher-cell pseudotumor) was diagnosed. Histology: Histopathological specimen (hematoxylin & eosin stain, ×1100) from the mass shown in Fig. 1 revealed lipid-laden macrophages with brittle cytoplasm, which are classical Gaucher cells. FNH is a circumscribed, usually solitary lesion composed of nodules of benign hyperplastic hepatocytes surrounding a central stellate fibrous scar. It is usually asymptomatic and often presents as an incidental finding at imaging. The hepatic lesion in this patient exhibited some MR characteristics typical of FNH.1 Although hepatic “pseudotumors” within or adjacent to parenchymal tissues are a common finding in Gaucher disease,2 hepatocellular carcinoma (HCC) should be excluded in this disease by biopsy. HCC without preexisting cirrhosis is increased in Gaucher disease,3, 4 and HCC may mimic the morphological pattern of FNH.5