Please use this identifier to cite or link to this item: https://hdl.handle.net/1/1981
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dc.contributor.authorOwens, Penny-
dc.contributor.otherKorula, S.-
dc.contributor.otherCharlton, A.-
dc.contributor.otherBhattacharya, K.-
dc.date.accessioned2021-06-30T02:17:24Z-
dc.date.available2021-06-30T02:17:24Z-
dc.date.issued2016-06-
dc.identifier.citation32:101-104en
dc.identifier.issn2192-8304en
dc.identifier.urihttps://elibrary.cclhd.health.nsw.gov.au/cclhdjspui/handle/1/1981-
dc.description.abstractBACKGROUND: 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.en
dc.description.sponsorshipPaediatricsen
dc.subjectChilden
dc.subjectPaediatricsen
dc.subjectPediatricsen
dc.titleRare Case of Hepatic Gaucheroma in a Child on Enzyme Replacement Therapyen
dc.typeJournal Articleen
dc.identifier.doi10.1007/8904_2016_562en
dc.description.pubmedurihttps://pubmed.ncbi.nlm.nih.gov/27334896/en
dc.description.affiliatesCentral Coast Local Health Districten
dc.description.affiliatesGosford Hospitalen
dc.identifier.journaltitleJIMD Reportsen
dc.type.studyortrialCase Series and Case Reportsen
dc.originaltypeTexten
item.fulltextNo Fulltext-
item.grantfulltextnone-
item.openairetypeJournal Article-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
Appears in Collections:Obstetrics / Paediatrics
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