Felnóttkori, I. típusú Gaucher-kór esete.

Translated title of the contribution: An adult form of type-I. Gaucher's disease

G. Múzes, E. Pitlik, A. Gohér, A. Somogyi, Z. Tulassay

Research output: Contribution to journalArticle

Abstract

A young woman with no previous history of any diseases was admitted for further evaluation of a mild thrombocytopenia she has had for some months. No signs of bleeding have so far occurred. Physical examination was normal except for a moderately enlarged spleen. Routine investigations showed lower platelet count. There was no laboratory evidence of disease conditions with autoimmune/inflammatory or hematologic origin. Bone marrow aspirate indicated Gaucher's-like cells raising the suspicion of Gaucher's disease. This was further supported by electron microscopic demonstration of Gaucher's bodies (with the characteristic tubular structures) in crista biopsy specimens. However, definitive diagnosis was obtained by verifying deficient lysosomal glucosylceramide-beta-D-glucosidase activity in peripheral blood leukocytes. Upon the absence of neurologic involvement the patient was typical for the adult form or type-1 Gaucher's disease.

Original languageHungarian
Pages (from-to)669-673
Number of pages5
JournalOrvosi Hetilap
Volume141
Issue number13
Publication statusPublished - Mar 26 2000

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Gaucher Disease
Glucosylceramidase
Splenomegaly
Platelet Count
Thrombocytopenia
Nervous System
Physical Examination
Leukocytes
Bone Marrow
Electrons
Hemorrhage
Biopsy

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Felnóttkori, I. típusú Gaucher-kór esete. / Múzes, G.; Pitlik, E.; Gohér, A.; Somogyi, A.; Tulassay, Z.

In: Orvosi Hetilap, Vol. 141, No. 13, 26.03.2000, p. 669-673.

Research output: Contribution to journalArticle

Múzes, G, Pitlik, E, Gohér, A, Somogyi, A & Tulassay, Z 2000, 'Felnóttkori, I. típusú Gaucher-kór esete.', Orvosi Hetilap, vol. 141, no. 13, pp. 669-673.
Múzes, G. ; Pitlik, E. ; Gohér, A. ; Somogyi, A. ; Tulassay, Z. / Felnóttkori, I. típusú Gaucher-kór esete. In: Orvosi Hetilap. 2000 ; Vol. 141, No. 13. pp. 669-673.
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