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Medical Science Monitor Basic Research


A Case of Treated Gaucher Disease with Progressive Neurological Damage

Rieko Sakamoto, Shiro Matsumoto, Tomoyuki Shimazu, Shinichiro Yoshida, Shohei Kuraoka, Hiroshi Mitsubuchi, Kimitoshi Nakamura

Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto City, Kumamoto, Japan

Med Sci Case Rep 2017; 4:37-40

DOI: 10.12659/MSCR.904439

Available online: 2017-05-01

Published: 2017-05-01


BACKGROUND: Gaucher disease is an autosomal recessive disease that involves immune changes. Patients with Gaucher disease are vulnerable to infections and inflammatory conditions, because of their abnormal cytokine production.
CASE REPORT: A girl with Gaucher disease had been receiving enzyme replacement therapy (ERT) from the age of four months. At the age of six years, she suddenly experienced high fever and general convulsions, with pulpitis, omarthritis, and osteomyelitis caused by an infection with methicillin-resistant Staphylococcus aureus. The patient required intensive care and sustained irreversible and progressive neurological damage.
CONCLUSIONS: It is possible to extend the life span of patients with neuronopathic Gaucher disease using ERT, although this treatment does not prevent neurological involvement. Furthermore, patients with untreated Gaucher disease are at risk for overwhelming infections, and in the present case, ERT did not prevent a life-threatening infection.

Keywords: enzyme replacement therapy, Gaucher disease