Gaucher's Disease Presenting with Massive Hepatic Fibrosis and Skeletal Abnormalities: A Case Report with Review of the Literature

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dc.contributor.authorYalcin, Kendal
dc.contributor.authorUcmak, Feyzullah
dc.contributor.authorBestas, Remzi
dc.contributor.authorUnal, Hakan Umit
dc.contributor.authorNecmioglu, Serdar
dc.contributor.authorMizrak, Bulent
dc.date.accessioned2024-04-24T17:27:36Z
dc.date.available2024-04-24T17:27:36Z
dc.date.issued2011
dc.departmentDicle Üniversitesien_US
dc.description.abstractThe case presented in this manuscript is a 32-year-old female referred to our clinic with massive hepatosplenomegaly, thrombocytopenia, anemia and avascular necrosis at the head of right femur. Gaucher's disease was diagnosed upon observation of specific blood cells in bone marrow and liver. Homozygote N370S mutation was established in the Gaucher's mutation screening. Glycocerebrosidase enzyme level of the patient was quite low (0.66 nmol/hour/mg). Additionally, histological examination of the liver revealed massive hepatic fibrosis without any clinically significant signs of cirrhosis or portal hypertension. Other significant signs of the patient were severe skeletal involvement with stage V/c avascular necrosis of the femoral head and Erlenmeyer flask paralysis. Glycocerebrosidase enzyme replacement therapy was initiated at 60 units/kg after the diagnosis was established. The case presented here is a female patient with signs of hepatic, bone marrow and skeletal system involvement. This rare non-neuropathic type 1 Gaucher's case with massive hepatic fibrosis and pathogonomic skeletal signs has been evaluated in the light of literature.en_US
dc.identifier.doi10.5336/medsci.2010-18977
dc.identifier.endpage758en_US
dc.identifier.issn1300-0292
dc.identifier.issue3en_US
dc.identifier.scopus2-s2.0-80051729525
dc.identifier.scopusqualityQ4
dc.identifier.startpage752en_US
dc.identifier.urihttps://doi.org/10.5336/medsci.2010-18977
dc.identifier.urihttps://hdl.handle.net/11468/20081
dc.identifier.volume31en_US
dc.identifier.wosWOS:000293108900039
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.language.isoenen_US
dc.publisherOrtadogu Ad Pres & Publ Coen_US
dc.relation.ispartofTurkiye Klinikleri Tip Bilimleri Dergisi
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectGaucher Diseaseen_US
dc.subjectLiveren_US
dc.subjectFibrosisen_US
dc.subjectMusculoskeletal Abnormalitiesen_US
dc.titleGaucher's Disease Presenting with Massive Hepatic Fibrosis and Skeletal Abnormalities: A Case Report with Review of the Literatureen_US
dc.titleGaucher's Disease Presenting with Massive Hepatic Fibrosis and Skeletal Abnormalities: A Case Report with Review of the Literature
dc.typeReview Articleen_US

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