Mild thrombocytopenia as presenting symptom of type 1 Gauchers's disease.
A young woman was examined for a mild thrombocytopenia which was present for some months. No signs of bleeding had so far occurred. Physical examination was normal except for a moderately enlarged spleen. Laboratory investigations showed a low platelet count. There was no evidence of an autoimmune or hematologic disease. Bone narrow 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 in crista biopsy specimens. However, the 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-onset or type 1 form of Gaucher's disease.
Müzes
G
G
2nd Department of Medicine, Semmelweis University, Budapest. muzes@bel2.sote.hu
Pitlik
E
E
Somogyi
A
A
Tulassay
Z
Z
D000328:Adult; D001706:Biopsy; D001853:Bone Marrow / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis* / Q000473:pathology; D005962:Glucosylceramidase / Q000172:deficiency; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology; D008247:Lysosomes / Q000473:pathology; D008854:Microscopy, Electron; D013921:Thrombocytopenia / Q000175:diagnosis* / Q000473:pathology
D005962:Glucosylceramidase