Abstract
Mucopolysaccharidosis is a rare lysosomal storage disease caused by deficiencies in enzymes involved in the degradation of glycosaminoglycans. We report the case of an adult with mucopolysaccharidosis type II who developed respiratory insufficiency after brain metastasectomy for extraskeletal Ewing sarcoma. This report describes the case of a 35-year-old man with a mass on the left chest wall for 3 months. Magnetic resonance imaging and computed tomography revealed a large mass on the chest wall. Positron emission tomography revealed multiple metastatic lesions in the lungs, ribs, and sternum. A needle biopsy specimen confirmed extraskeletal Ewing sarcoma, and the fusion gene EWS-FLI1 was positive. Subsequently, multidrug chemotherapy was administered. During radiotherapy for the primary lesion, progressive convulsions occurred suddenly. Computed tomography of the brain revealed metastasis in the frontal lobe. Brain metastasectomy was scheduled; however, endotracheal intubation was not possible because of the deformity of the glottis, and emergency tracheostomy was performed. Thereafter, granulation tissue proliferated in reaction to the tracheostomy cannulae in the trachea, and respiratory insufficiency persisted. Because of the rapid growth of an intrathoracic recurrent tumor, the patient passed away 2 months after brain surgery. This is the first report of sarcoma in a patient with mucopolysaccharidosis. Respiratory management is difficult in patients with mucopolysaccharidosis, especially under general anesthesia. Orthopedic surgeons should be aware that surgical planning must be performed carefully when soft tissue sarcomas occur in patients with mucopolysaccharidosis.