Joint Stiffness Leads to the Diagnosis of a Rare Disease

Introduction: A 6-year-old boy was referred to our hospital because of the stiffness both knees, which had commenced two years ago and gradually progressed hips, ankles, elbows, fingers, toes. He occasionally arthralgia with no complaint joint swelling. a long face, prominent forehead chin, short neck. There limitation in range motion all appendicular joints deformity. Case Presentation: Skeletal survey images revealed central beaking bullet shape appearance cervical lumbar vertebra, tapering iliac wings, deformity femoral head, sacral length. +3 glycosaminoglycan (GAG) excretion detected urine test, but genetic analysis Mucolipidosis type III. Conclusions: The diagnosis metabolic diseases should be considered whenever there is without any evidence inflammation. Mucopolysaccharidoses Mucolipidoses are progressive storage disorders many clinical radiological characteristics.