Satisfactory course of a patient with Gaucher disease
Keywords:
Gaucher disease, orphan diseases, hereditary disorder.Abstract
Gaucher disease is a hereditary, metabolic, lysosomal storage disorder. It is a chronic progressive and multisystemic disease with an autosomal recessive pattern. The objective of this article is to describe the evolution of a 44-year-old male, mixed-race patient, who was referred to the Celia Sánchez Manduley Provincial Clinical Surgical Hospital in Manzanillo for bone pain in the hips. Radiological studies were positive and confirmed the diagnosis, pain on palpation and mobilization of the left hip, as well as stiffness of the left knee on extension. In conclusion, with the indicated treatment guidelines, the patient achieved total independence in performing activities of daily living. In addition, he reached a functional march, with external support and without support. His satisfactory evolution allowed him to actively join social life and improve his quality of life.
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References
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