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Neurological features in Gaucher's disease during enzyme replacement therapy.
- Source :
-
Acta Paediatrica . Feb2001, Vol. 90 Issue 2, p229-231. 3p. - Publication Year :
- 2001
-
Abstract
- <bold>Unlabelled: </bold>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 4 y, he suffered a generalized cutaneous disease which was clinically diagnosed as ichthyosis.<bold>Conclusion: </bold>These cases suggest that ordinary enzyme replacement therapy is insufficient for some of the non-neurological manifestations of severe types of Gaucher's disease. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 08035253
- Volume :
- 90
- Issue :
- 2
- Database :
- Academic Search Index
- Journal :
- Acta Paediatrica
- Publication Type :
- Academic Journal
- Accession number :
- 138248099