Please use this identifier to cite or link to this item:
https://hdl.handle.net/1/1981
Full metadata record
DC Field | Value | Language |
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dc.contributor.author | Owens, Penny | - |
dc.contributor.other | Korula, S. | - |
dc.contributor.other | Charlton, A. | - |
dc.contributor.other | Bhattacharya, K. | - |
dc.date.accessioned | 2021-06-30T02:17:24Z | - |
dc.date.available | 2021-06-30T02:17:24Z | - |
dc.date.issued | 2016-06 | - |
dc.identifier.citation | 32:101-104 | en |
dc.identifier.issn | 2192-8304 | en |
dc.identifier.uri | https://elibrary.cclhd.health.nsw.gov.au/cclhdjspui/handle/1/1981 | - |
dc.description.abstract | 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. | en |
dc.description.sponsorship | Paediatrics | en |
dc.subject | Child | en |
dc.subject | Paediatrics | en |
dc.subject | Pediatrics | en |
dc.title | Rare Case of Hepatic Gaucheroma in a Child on Enzyme Replacement Therapy | en |
dc.type | Journal Article | en |
dc.identifier.doi | 10.1007/8904_2016_562 | en |
dc.description.pubmeduri | https://pubmed.ncbi.nlm.nih.gov/27334896/ | en |
dc.description.affiliates | Central Coast Local Health District | en |
dc.description.affiliates | Gosford Hospital | en |
dc.identifier.journaltitle | JIMD Reports | en |
dc.type.studyortrial | Case Series and Case Reports | en |
dc.originaltype | Text | en |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.cerifentitytype | Publications | - |
item.grantfulltext | none | - |
item.openairetype | Journal Article | - |
item.fulltext | No Fulltext | - |
Appears in Collections: | Obstetrics / Paediatrics |
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