Title: Neurological features in Gaucher's disease during enzyme replacement therapy
Abstract: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 p...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.Read More
Publication Year: 2001
Publication Date: 2001-02-01
Language: en
Type: article
Indexed In: ['crossref']
Access and Citation
Cited By Count: 6
AI Researcher Chatbot
Get quick answers to your questions about the article from our AI researcher chatbot