[An adult form of type-I. Gaucher's disease].
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.
Múzes
G
G
Semmelweis Egyetem, Budapest, Altalános Orvostudományi Kar, II. Belklinika.
Pitlik
E
E
Gohér
A
A
Somogyi
A
A
Tulassay
Z
Z
D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D005776:Gaucher Disease / Q000150:complications / Q000175:diagnosis* / Q000473:pathology / Q000628:therapy; D015316:Genetic Therapy; D006801:Humans; D013163:Splenomegaly / Q000235:genetics; D013921:Thrombocytopenia / Q000235:genetics