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Rare Case of Hepatic Gaucheroma in a Child on Enzyme Replacement Therapy
Sophy Korula1, Penny Owens2, Amanda Charlton2
1Genetic Metabolic Disorders Service, Children's Hospital at Westmead, Sydney, NSW, 2145, Australia. jsophyhr@yahoo.co.in.
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.
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