[Gaucher disease type 1, incidentally found on a periodic physical examination].
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.
Yoshida
K
K
First Department of Internal Medicine, Saitama Medical School, Japan.
Kawai
N
N
Matsuda
A
A
Murohashi
I
I
Jinnai
I
I
Ino
H
H
Bessho
M
M
Takeuchi
H
H
Saitoh
M
M
Hirashima
K
K
D000328:Adult; D005776:Gaucher Disease / Q000175:diagnosis*; D006801:Humans; D008297:Male; D010507:Periodicity; D010808:Physical Examination