[A case of adult Gaucher disease].
The authors describe a case of an adult patient having Gaucher's disease, who had hepatosplenomegaly and pancytopenia. The diagnosis was established by the low level of leukocyte beta-glucosidase and by histology of bone marrow, liver and spleen. The patient had no bone pain, but MRI described characteristic lesions of the femur. Serum acid phosphatase was characteristically elevated. The hypersplenism was reduced after splenectomy. The patient has a daughter with central nervous system dysfunction. Her chromosome examination is normal, but she has lower leukocyte beta-glucosidase activity too. She may have a Gaucher's disease of type II, the acute neuropathic form.
Werling
K
K
Semmelweis Orvostudományi Egyetem, Budapest, II. Belklinika.
Lengyel
G
G
Vallent
K
K
Zalatnai
A
A
Burger
M
M
Laky
J
J
D000328:Adult; D002493:Central Nervous System Diseases / Q000201:enzymology / Q000235:genetics; D002648:Child; D005260:Female; D005776:Gaucher Disease / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006529:Hepatomegaly / Q000150:complications; D006801:Humans; D008279:Magnetic Resonance Imaging; D010198:Pancytopenia / Q000150:complications; D013163:Splenomegaly / Q000150:complications; D001617:beta-Glucosidase / Q000172:deficiency
D001617:beta-Glucosidase
Felnöttkori Gaucher-kór esete.