Mucopolysaccharidoses

Mucopolysaccharidoses are progressive disease processes characterized by deficiencies in lysosomal enzymes required for catabolism of glycosaminoglycans. This leads to the accumulation of glycosaminoglycans (GAGs) in multiple organs and tissue. In particular, the deposition of GAGs in soft tissue, the central nervous system, and the cervical spine have implications for the anesthetic management of these patients. A detailed history and examination, with a focus on cardiopulmonary status and past airway management, is required pre-operatively. Enzyme replacement therapy and, in select cases, hematopoietic stem cell transplantation may modify disease progression. This chapter illustrates the perioperative considerations necessary to care for patients with this uncommon disease.