Rare Case of Hepatic Gaucheroma in a Child on Enzyme Replacement Therapy

  • Sophy KorulaEmail author
  • Penny Owens
  • Amanda Charlton
  • Kaustuv Bhattacharya
Case Report
Part of the JIMD Reports book series (JIMD, volume 32)


Background: We present a 6 year old boy with type I Gaucher treated from 16 months with ERT, developing focal Gaucheroma in the liver at 3.5 years.

Case: The subject presented at 13 months of age with anaemia, thrombocytopenia and hepatosplenomegaly. Gaucher disease was confirmed by leucocyte enzyme assay. A homozygous change: c.1193G>A (p.Arg398Gln) in the GBA gene was identified. He had normal neurology with normal saccades. Imiglucerase was administered at 60 IU/kg/fortnight from 15 months as per Australian regulations with good clinical response. At 3.5 years hepatic ultrasound demonstrated a nodular cystic lesion measuring 7 × 5.3 × 5.1 cm in the right lobe of liver, confirmed on MRI. Biopsy demonstrated acellular hyaline necrosis, portal–portal bridging fibrosis and nodules of Gaucher cells. Cystic fluid comprised necrotic debris and Gaucher cells. Further evaluation over 18 months including repeat MRI, biopsy, alpha-fetoprotein monitoring and whole-body FDG-Pet scan demonstrate no malignancy.

Conclusion: GD is the most common lysosomal storage disorder. The aetiology, natural history and optimal management strategy of rare Gaucheroma in paediatric cases has not been defined particularly in regards to malignancy risk.


Enzyme Replacement Therapy Gauche Disease Focal Nodular Hyperplasia Malignancy Risk Gauche Cell 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


  1. Anderson LJ, Henley W, Wyatt KM, Nikolaou V, Waldek S, Hughes DA, Pastores GM et al (2014) Long-term effectiveness of enzyme replacement therapy in children with Gaucher disease: results from the NCS-LSD cohort study. J Inherit Metab Dis 37:961–968CrossRefPubMedGoogle Scholar
  2. Bertram HC, Eldibany M, Padgett J, Dragon LH (2003) Splenic lymphoma arising in a patient with Gaucher disease. A case report and review of the literature. Arch Pathol Lab Med 127(5):e242–e245PubMedGoogle Scholar
  3. Biegstraaten M, Mengel E, Maródi L, Petakov M, Niederau C, Giraldo P, Hughes D et al (2010) Peripheral neuropathy in adult type 1 Gaucher disease: a 2-year prospective observational study. Brain 133(10):2909–2919CrossRefPubMedGoogle Scholar
  4. Brady RO, Kanfer JN, Shapiro D (1965) Metabolism of Glucocerebrosides. II. Evidence of an enzymatic deficiency in Gauchers disease. Biochem Biophys Res Commun 18:221–225CrossRefPubMedGoogle Scholar
  5. Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE et al (2000) The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med 160(18):2835–2843CrossRefPubMedGoogle Scholar
  6. Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Prakash-Cheng A et al (2004) Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations. J Pediatr 144(1):112–120CrossRefPubMedGoogle Scholar
  7. Chippington S, McHugh K, Vellodi A (2008) Splenic nodules in paediatric Gaucher disease treated by enzyme replacement therapy. Pediatr Radiol 38:657–660CrossRefPubMedGoogle Scholar
  8. Mistry PK, Taddei, T, vom Dahl S, Rosenbloom BE (2013) Gaucher disease and malignancy: a model for cancer pathogenesis in an inborn error of metabolism. Crit Rev Oncog 18(3):235–246Google Scholar
  9. Kaplan P, Andersson HC, Kacena KA, Yee JD (2006) The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis. Arch Pediatr Adolesc Med 160:603–608Google Scholar
  10. Pastores GM, Weinreb NJ, Aerts H, Generoso A, Cox TM, Giralt M, Grabowski GA et al (2004) Therapeutic goals in the treatment of Gaucher disease. Semin Hematol 41(Suppl 5):4–14Google Scholar
  11. Poll LW, Vom Dahl S (2009) Hepatic Gaucheroma mimicking focal nodular hyperplasia. Hepatology 50(3):985–986Google Scholar
  12. Shiran A, Brenner B, Laor A, Tatarsky I (1993) Increased risk of cancer in patients with Gaucher disease. Cancer 72(1):219–224Google Scholar
  13. Tayebi N, Callahan M, Madike V, Stubblefield BK, Orvisky E, Krasnewich D, Fillano JJ et al (2001) Gaucher disease and parkinsonism: a phenotypic and genotypic characterization. Mol Genet Metab 73(4):313–321CrossRefPubMedGoogle Scholar
  14. Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G et al (2002) Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. Am J Med 113(2):112–119Google Scholar
  15. Xu R, Mistry P, McKenna G, Emre S, Schiano T, Bu-Ghanim M, Levi G et al (2005) Hepatocellular carcinoma in type 1 Gaucher disease: a case report with review of the literature. Semin Liver Dis 25(2):226–229CrossRefPubMedGoogle Scholar

Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2016

Authors and Affiliations

  • Sophy Korula
    • 1
    Email author
  • Penny Owens
    • 1
  • Amanda Charlton
    • 1
  • Kaustuv Bhattacharya
    • 1
  1. 1.Genetic Metabolic Disorders Service, Children’s Hospital at WestmeadSydneyAustralia

Personalised recommendations