[Gaucher disease type 1, incidentally found on a periodic physical examination]

K Yoshida; N Kawai; A Matsuda; I Murohashi; I Jinnai; H Ino; M Bessho; H Takeuchi; M Saitoh; K Hirashima

[Gaucher disease type 1, incidentally found on a periodic physical examination]

Rinsho Ketsueki. 1996 Jan;37(1):82-5.

[Article in Japanese]

Authors

K Yoshida¹, N Kawai, A Matsuda, I Murohashi, I Jinnai, H Ino, M Bessho, H Takeuchi, M Saitoh, K Hirashima

Affiliation

¹ First Department of Internal Medicine, Saitama Medical School, Japan.

PMID: 8683874

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.

Publication types

Case Reports
English Abstract

MeSH terms

Adult
Gaucher Disease / diagnosis*
Humans
Male
Periodicity
Physical Examination*