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Unlabelled: Mucopolysaccharidoses (MPSs) are inherited metabolic diseases characterized by the deficiency of lysosomal enzymes and the accumulation of glycosaminoglycans in various organs, including the heart. In particular, aortic valve disease causes high morbidity and mortality rates, and sometimes requires surgical aortic valve replacement (SAVR) at a young age. Although transcatheter aortic valve replacement (TAVR) for severe aortic stenosis (AS) in surgical high-risk patients is a well-established treatment, there are few reports of TAVR in MPS and medium- and long-term outcomes are not known.

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Ultrasound findings of carpal tunnel syndrome in a Hunter syndrome patient.

Muscle Nerve

January 2016

Neurological Institute, University Hospitals - Case Medical Center, Case Western Reserve University, 11100 Euclid Avenue, Cleveland, OH, 44106-5098, USA.

Introduction: Hunter syndrome (mucopolysaccharidosis II) is a rare genetic disorder. Carpal tunnel syndrome (CTS) is a common finding in these patients.

Methods: We report the ultrasound findings in a 40-year-old Hunter syndrome patient with severe CTS.

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We describe a 40-year-old male patient with Hunter's syndrome. His main manifestations were ascites and esophageal varices due to cirrhotic liver. We obtained hepatic biopsy samples and examined them.

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