title: Legg-Perthes disease-like joint involvement and diagnosis delay in Scheie syndrome: a case report.
abstract: Mucopolysaccharidosis (MPS) type I is an inherited disease caused by the absence or malfunctioning of lysosomal enzymes. Three subtypes, based on severity of symptoms, were described, and Scheie syndrome (also called MPS I S) is the mildest form. Although there may be some typical extra-articular manifestations, musculoskeletal involvement may be the only presenting sign in the absence of other symptoms in the patients with less severe forms. The patients with MPS I S, especially in attenuated phenotypes, may be sometimes difficult to recognize for physicians not familiar with the disease. With this case presentation, it is aimed to draw attention to this disease, which could be delayed for the correct diagnosis. An increased awareness of the disease may contribute to more accurate diagnosis, and patients may benefit from early intervention.
authors.affiliation: Department of Physical Medicine and Rehabilitation, School of Medicine, Akdeniz University, Antalya, Turkey. mamelikoglu@gmail.com
authors.forename: Meltem Alkan
authors.initials: MA
authors.lastname: Melikoglu
authors.forename: Hilal
authors.initials: H
authors.lastname: Kocabas
authors.forename: Ilhan
authors.initials: I
authors.lastname: Sezer
authors.forename: Hasan Fatih
authors.initials: HF
authors.lastname: Cay
authors.forename: Aysegul Guller
authors.initials: AG
authors.lastname: Cassidy
authors.forename: Nilufer
authors.initials: N
authors.lastname: Balci
mesh_terms: D000293:Adolescent; D003937:Diagnosis, Differential; D005270:Femur Head / Q000002:abnormalities / Q000000981:diagnostic imaging; D006226:Hand Deformities; D006801:Humans; D007068:Iduronidase / Q000172:deficiency; D007596:Joints / Q000473:pathology; D007873:Legg-Calve-Perthes Disease / Q000175:diagnosis* / Q000473:pathology*; D008297:Male; D008059:Mucopolysaccharidosis I / Q000175:diagnosis* / Q000473:pathology*; D009141:Musculoskeletal System / Q000473:pathology*; D010641:Phenotype; D011859:Radiography
chemical_list: D007068:Iduronidase