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IMAGE OF THE MONTH Hepatic Gaucheroma Mimicking Focal Nodular Hyperplasia A 23-year-old man was referred to the hospital be- cause of weakness, bone pain, and fatigue. Physi- cal examination showed a marked hepatomegaly. His hemoglobin level was 133 g/L (normal 140 g/L) and liver aminotransferases were moderately elevated (as- partate 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 compar- ison to the adjacent liver parenchyma on T 2 -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 subse- quent splenectomy had shown Gaucher cells. Here, the diagnosis of Gaucher disease was confirmed by dimin- ished blood -glucocerebrosidase activity and increased plasma chitotriosidase. An ultrasound-guided fine-needle biopsy showed an extensive accumulation of Gaucher cells within liver sinu- soids (Fig. 2). There was no histological evidence of FNH or malignancy, and hepatic Gaucheroma (Gaucher-cell pseudotumor) was diagnosed. FNH is a circumscribed, usually solitary lesion com- posed of nodules of benign hyperplastic hepatocytes sur- rounding 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 he- patic “pseudotumors” within or adjacent to parenchymal tissues are a common finding in Gaucher disease, 2 hepa- tocellular 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 LUDGER WILHELM POLL, M.D. 1 STEPHAN VOM DAHL, M.D. 2 1 Institute of Radiology, Trauma Hospital Duisburg, Duisburg, Germany 2 St. Franziskus-Hospital, Academic Teaching Hospital of the University of Cologne, Cologne, Germany Abbreviations: FNH, focal nodular hyperplasia; HCC, hepatocellular carci- noma; MRI, magnetic resonance imaging. Address reprint requests to: Ludger Wilhelm Poll, M.D., Institute of Radiology, Trauma Hospital Duisburg, Grossenbaumer Allee 250, D-47249 Duisburg, Ger- many. E-mail: [email protected]; fax: 49-203-3482919. Copyright © 2009 by the American Association for the Study of Liver Diseases. Published online in Wiley InterScience (www.interscience.wiley.com). DOI 10.1002/hep.23183 Potential conflict of interest: Nothing to report. Fig. 1. Magnetic resonance imaging: Axial T 2 -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. Fig. 2. 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. 985

Hepatic Gaucheroma mimicking focal nodular hyperplasia

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Page 1: Hepatic Gaucheroma mimicking focal nodular hyperplasia

IMAGE OF THE MONTH

Hepatic Gaucheroma Mimicking Focal NodularHyperplasia

A 23-year-old man was referred to the hospital be-cause of weakness, bone pain, and fatigue. Physi-cal examination showed a marked hepatomegaly.

His hemoglobin level was 133 g/L (normal � 140 g/L)and liver aminotransferases were moderately elevated (as-partate aminotransferase was 63 U/L [normal � 35] andalanine aminotransferase was 60 U/L [normal � 45]).Ultrasound of the abdomen showed hepatomegaly with ahyperechoic mass (7.4 cm � 7.3 cm � 9.0 cm) adjacentto the left liver lobe, requiring further work-up. Livermagnetic resonance imaging (MRI) demonstrated a well-delineated mass, which appeared hyperintense in compar-ison to the adjacent liver parenchyma on T2-weightedimages (Fig. 1). A central hypointense scar was detected,suggestive of focal nodular hyperplasia (FNH). At the ageof 5 years, splenomegaly had been diagnosed and subse-quent splenectomy had shown Gaucher cells. Here, thediagnosis of Gaucher disease was confirmed by dimin-

ished blood �-glucocerebrosidase activity and increasedplasma chitotriosidase.

An ultrasound-guided fine-needle biopsy showed anextensive accumulation of Gaucher cells within liver sinu-soids (Fig. 2). There was no histological evidence of FNHor malignancy, and hepatic Gaucheroma (Gaucher-cellpseudotumor) was diagnosed.

FNH is a circumscribed, usually solitary lesion com-posed of nodules of benign hyperplastic hepatocytes sur-rounding a central stellate fibrous scar. It is usuallyasymptomatic and often presents as an incidental findingat imaging. The hepatic lesion in this patient exhibitedsome MR characteristics typical of FNH.1 Although he-patic “pseudotumors” within or adjacent to parenchymaltissues are a common finding in Gaucher disease,2 hepa-tocellular carcinoma (HCC) should be excluded in thisdisease by biopsy. HCC without preexisting cirrhosis isincreased in Gaucher disease,3,4 and HCC may mimic themorphological pattern of FNH.5

LUDGER WILHELM POLL, M.D.1STEPHAN VOM DAHL, M.D.21Institute of Radiology, Trauma Hospital Duisburg,

Duisburg, Germany2St. Franziskus-Hospital, Academic Teaching Hospital of

the University of Cologne, Cologne, Germany

Abbreviations: FNH, focal nodular hyperplasia; HCC, hepatocellular carci-noma; MRI, magnetic resonance imaging.

Address reprint requests to: Ludger Wilhelm Poll, M.D., Institute of Radiology,Trauma Hospital Duisburg, Grossenbaumer Allee 250, D-47249 Duisburg, Ger-many. E-mail: [email protected]; fax: �49-203-3482919.

Copyright © 2009 by the American Association for the Study of Liver Diseases.Published online in Wiley InterScience (www.interscience.wiley.com).DOI 10.1002/hep.23183Potential conflict of interest: Nothing to report.

Fig. 1. Magnetic resonance imaging: Axial T2-weighted MRI of theupper abdomen showing a hyperintense mass (white arrows) adjacent tothe left liver lobe in a patient with Gaucher disease who underwentsplenectomy. A central hypointense scar (white arrowhead) within themass suggests FNH.

Fig. 2. Histology: Histopathological specimen (hematoxylin &eosin stain, �1100) from the mass shown in Fig. 1 revealedlipid-laden macrophages with brittle cytoplasm, which are classicalGaucher cells.

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References1. Hussain SM, Terkivatan T, Zondervan PE, Lanjouw E, de Rave S, Ijzer-

mans JN, et al. Focal nodular hyperplasia: findings at state-of-the-art MRimaging, US, CT, and pathologic analysis. Radiographics 2004;24:3-17.

2. Poll LW, Koch JA, vom Dahl S, Loxtermann E, Sarbia M, Niederau C, et al.Extraosseous manifestation of Gaucher’s disease type I: MR and histologicalappearance. Eur Radiol 2000;10:1660-1663.

3. de Fost M, vom Dahl S, Weverling GJ, Brill N, Brett S, Haussinger D, et al.

Increased incidence of cancer in adult Gaucher disease in Western Europe.Blood Cells Mol Dis 2006;36:53-58.

4. Zimran A, Elstein D, vom Dahl S. Gaucher disease. In: Shattner A, KnoblerH, eds. Metabolic Aspects of Chronic Liver Disease. Jerusalem, Israel: NovaScience Publishers; 2008:225-243.

5. Yamamoto M, Ariizumi S, Yoshitoshi K, Saito A, Nakano M, Takasaki K.Hepatocellular carcinoma with a central scar and a scalloped tumor marginresembling focal nodular hyperplasia in macroscopic appearance. J SurgOncol 2006;94:587-591.

986 POLL AND VOM DAHL HEPATOLOGY, September 2009