title: [Gaucher disease type 1, incidentally found on a periodic physical examination].
abstract: A 33-year-old man was admitted to our hospital because of thrombocytopenia found on a periodic physical examination. Splenomegaly was recognized Peripheral blood showed WBC 4,510/microliters, Hb 12.5 g/dl, and Plt 40,000/microliters. Increased serum levels of acid phosphatase and angiotensin converting enzyme were observed on laboratory tests. Bone marrow aspirate revealed Gaucher cells. Decreased beta-glucosidase activity was demonstrated in blood leukocytes, cultured blood lymphocytes, and cultured bone marrow fubroblasts from the patient. His glucocerebrosidase genotype was T1448C/C1504T (L444P/R463C). Since neurological examination and skeletal X ray results were normal, Gaucher disease type 1 was diagnosed.
authors.affiliation: First Department of Internal Medicine, Saitama Medical School, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Yoshida
authors.forename: N
authors.initials: N
authors.lastname: Kawai
authors.forename: A
authors.initials: A
authors.lastname: Matsuda
authors.forename: I
authors.initials: I
authors.lastname: Murohashi
authors.forename: I
authors.initials: I
authors.lastname: Jinnai
authors.forename: H
authors.initials: H
authors.lastname: Ino
authors.forename: M
authors.initials: M
authors.lastname: Bessho
authors.forename: H
authors.initials: H
authors.lastname: Takeuchi
authors.forename: M
authors.initials: M
authors.lastname: Saitoh
authors.forename: K
authors.initials: K
authors.lastname: Hirashima
mesh_terms: D000328:Adult; D005776:Gaucher Disease / Q000175:diagnosis*; D006801:Humans; D008297:Male; D010507:Periodicity; D010808:Physical Examination