I-cell disease and its rehabilitation: case study.
I-cell disease is a rare inborn error of mucolipid metabolism that is characterized by generalized hypotonia, thick and tight skin, restriction of joint motion, coarse facial features, bony deformities, and an inability to stand or walk. A case was treated with gentle stretching, neurodevelopmental therapy, and strengthening exercises of both hip and knee extensor muscles. After this treatment the patient was able to ambulate with moderate support using bilateral long leg braces.
D002675:Child, Preschool; D002658:Developmental Disabilities / Q000209:etiology; D005081:Exercise Therapy; D005260:Female; D006225:Hand / Q000000981:diagnostic imaging; D006801:Humans; D009081:Mucolipidoses / Q000150:complications / Q000534:rehabilitation*; D011859:Radiography; D012658:Sella Turcica / Q000000981:diagnostic imaging; D013131:Spine / Q000000981:diagnostic imaging