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  • Title: Neurological features in Gaucher's disease during enzyme replacement therapy.
    Author: Ono H, Fujiwara M, Ito K, Ueda H, Mizoguchi N, Sakura N.
    Journal: Acta Paediatr; 2001 Feb; 90(2):229-31. PubMed ID: 11236058.
    Abstract:
    UNLABELLED: 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. 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.
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