Mucopolysaccharidosis Type I (Scheie Syndrome): From Clinical Suspicion to Therapeutic Follow-Up, a Case Report.

Abstract

Mucopolysaccharidosis type I (MPS I) is a rare inherited lysosomal disorder caused by mutations in the IDUA gene, which lead to deficiency of α-L-iduronidase and accumulation of glycosaminoglycans in multiple organs. The attenuated form, Scheie Syndrome, is characterized by progressive musculoskeletal, ocular, and cardiac involvement without cognitive impairment. This case study presents the clinical evolution and therapeutic follow-up of a female patient diagnosed with MPS I, Scheie form. The diagnosis was established through elevated urinary glycosaminoglycans and molecular confirmation after a history of joint stiffness and hand pain since childhood, initially mistaken for orthopedic conditions. Enzyme replacement therapy with laronidase was initiated at 21 years of age, resulting in significant biochemical improvement, clinical stabilization, and preservation of functional capacity. Multidisciplinary follow-up including genetics, ophthalmology, orthopedics, cardiology, and physiotherapy contributed to sustained quality of life and control of residual symptoms. This report underscores the importance of clinical awareness, timely diagnosis, and continuous care in managing rare metabolic disorders such as Scheie Syndrome, highlighting the role of coordinated therapeutic strategies in improving long-term outcomes.