Neurological features in Gaucher's disease during enzyme replacement therapy
Article first published online: 2 JAN 2007
Volume 90, Issue 2, pages 229–231, February 2001
How to Cite
Ono, H., Fujiwara, M., Ito, K., Ueda, H., Mizoguchi, N. and Sakura, N. (2001), Neurological features in Gaucher's disease during enzyme replacement therapy. Acta Paediatrica, 90: 229–231. doi: 10.1111/j.1651-2227.2001.tb00291.x
- Issue published online: 2 JAN 2007
- Article first published online: 2 JAN 2007
- Received Aug 26, 2000; revisions received Jan. 17, 2000, May 15, 2000, Sep. 8, 2000; accepted Sep. 8, 2000
- Enzyme replacement therapy;
- Gaucher's disease;
- pericardial effusion
This report describes two patients with Gaucher's disease who had unusual clinical symptoms during enzyme replacement therapy. One patient was a female with type 3 Gaucher's disease. She developed a pericardial effusion at 7 y of age, which contained many Gaucher cells despite enzyme replacement therapy. She died from neurological deterioration during enzyme replacement therapy, despite an improvement in her visceral manifestations. The other patient is a male with type 2 Gaucher's disease, who has achieved long-term survival after being supported by mechanical ventilation and enzyme replacement therapy. While on enzyme replacement therapy at the age of 4y, he suffered a generalized cutaneous disease which was clinically diagnosed as ichthyosis.
Conclusion: These cases suggest that ordinary enzyme replacement therapy is insufficient for some of the non-neurological manifestations of severe types of Gaucher's disease.