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Neurological features in Gaucher’s disease during enzyme replacement therapy

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Ono, H.; Fujiwara, M.; Ito, K.; Ueda, H.; Mizoguchi, N.; Sakura, N.

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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