[Diagnostic difficulties in Gaucher disease: report of two cases].
Diagnostic difficulties of Gaucher disease, a disorder resulted from a deficient activity of glucocerebrosidase is reported. Gaucher disease was described in the 16 year old male, 5 years after manifestation of the very first symptoms (fracture and osteomyelitis). At the age of 14, the cirrhosis due to viral hepatitis accompanied with splenomegaly was diagnosed. This findings was not associated with the earlier osseous disorders. Histopathologic examination of the removed spleen facilitate the diagnosis. The second case refers to 20 year old female. Clinical symptoms and additional test pointed to malignant neoplasm of thyroid, the reproductive organs or cancer of indistinguishable primary focus with metastases in the liver. Trepanobiopsy of bone marrow had made an accurate diagnosis possible, while determination of beta-glucosidase activity in peripheral white blood cells, chitotriosidase activity, and molecular investigations of gene specific to beta-glucocerebrosidase proved it.
Kuliszkiewicz-Janus
M
M
Katedra i Klinika Hematologii i Chorób Rozrostowych AM we Wrocławiu.
Urbaniak-Kujda
D
D
Nowak
E
E
D000328:Adult; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis*; D006525:Hepatitis, Viral, Human / Q000175:diagnosis; D006801:Humans; D008103:Liver Cirrhosis / Q000175:diagnosis; D008113:Liver Neoplasms / Q000175:diagnosis; D008297:Male; D013154:Spleen / Q000473:pathology / Q000601:surgery; D013964:Thyroid Neoplasms / Q000175:diagnosis