Legg-Perthes disease-like joint involvement and diagnosis delay in Scheie syndrome: a case report.
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.
Melikoglu
Meltem Alkan
MA
Department of Physical Medicine and Rehabilitation, School of Medicine, Akdeniz University, Antalya, Turkey. mamelikoglu@gmail.com
Kocabas
Hilal
H
Sezer
Ilhan
I
Cay
Hasan Fatih
HF
Cassidy
Aysegul Guller
AG
Balci
Nilufer
N
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
D007068:Iduronidase