Arthropathy-like findings and a carpal tunnel syndrome as the presenting features of Scheie syndrome: Three cases from the same family

Özet

Mucopolysaccharidosis (MPS) type I is a rare autosomal recessive diseasecaused by a deficiency of the lysosomal enzyme α-L-iduronidase. MPS Iis divided into three subtypes based on the severity of symptoms: Hurler,Hurler–Scheie, and Scheie syndrome (severe, intermediate, and mild forms,respectively). Musculoskeletal involvement may be the only presenting signin the patients with Scheie syndrome. We have reviewed three cases withprominent features of carpal tunnel syndrome (CTS) at the onset of theirdisease. Diagnosis was delayed in almost all cases (range 16-19 years).During one year of follow-up period, alleviations of the pain in the hands ofpatients were observed after enzyme replacement therapy. MPS type I shouldbe considered in the differential diagnosis of the patients with CTS in thefirst and second decades of life, particularly with stiffness of the fingers anddifficulty using the hands without an inflammatory component. An increasedawareness of the disease may contribute to more accurate diagnosis, andpatients may benefit from early intervention.