Felnöttkori Gaucher-kór esete.

Translated title of the contribution: A case of adult Gaucher disease

K. Werling, G. Lengyel, K. Vallent, A. Zalatnai, M. Burger, J. Laky

Research output: Contribution to journalReview article

Abstract

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.

Original languageHungarian
Pages (from-to)2631-2634
Number of pages4
JournalOrvosi hetilap
Volume133
Issue number41
Publication statusPublished - Oct 11 1992

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ASJC Scopus subject areas

  • Medicine(all)

Cite this

Werling, K., Lengyel, G., Vallent, K., Zalatnai, A., Burger, M., & Laky, J. (1992). Felnöttkori Gaucher-kór esete. Orvosi hetilap, 133(41), 2631-2634.