JIMD Reports, Volume 32

Korula, Sophy, Owens, Penny, Charlton, Amanda, Bhattacharya, Kaustuv, Sophy Korula, Penny Owens, Amanda Charlton, Kaustuv Bhattacharya

Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters

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. 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. 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.