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[Indications for splenectomy in Gaucher's disease. Case report]
P Ferrazza1, M Assenza, F Diomedi Camassei
1Istituto di IV Clinica Chirurgica, Cattedra di Chirurgia Generale, Università degli Studi La Sapienza, Roma.
Il Giornale Di Chirurgia
|April 1, 1997
Summary
Gaucher's disease, a rare metabolic disorder, was diagnosed in a patient presenting with splenomegaly and hemangioma. Early diagnosis is crucial for appropriate management, including surgery or enzyme replacement therapy.
Area of Science:
- Biochemistry
- Genetics
- Internal Medicine
Background:
- Gaucher's disease is a rare inherited metabolic disorder.
- It results from a deficiency of the beta-glucocerebrosidase enzyme.
- This deficiency leads to the accumulation of glucocerebroside in cells, particularly macrophages.