Akademik Veri Yönetim Sistemi
Turkiye Klinikleri Journal of Medical Sciences, cilt.31, sa.3, ss.752-758, 2011 (SCI-Expanded)
The 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. © 2011 by Türkiye Klinikleri.