Lower limb deformity caused by hereditary and metabolic diseases

Abstract

Hereditary sensorimotor neuropathy (Charcot–Marie–Tooth, CMT) is a progressive, neuromuscular atrophy syndrome which is known clinically as fibula muscular atrophy or hereditary motor sensory neuropathy; it is the most common autosomal dominant genetic disorder in the peripheral nervous system, most of which occur in childhood and adolescence. The deformities of osteogenesis imperfecta (OI) caused by repeated fractures and malunion, the axis of limbs can be restored by osteotomy, and the walking function of the patients can be improved. Development of the deformities of lower extremity in OI patients basically stopped or slowed down after the ossification of the bones in the adult period, which should be corrected reasonably. Because the deformities of lower extremities in such patients were severe and complicated, most of the deformities could not be corrected at one stage. Ilizarov technique could be used to correct the deformities safely and satisfactorily. Rickets is a group of metabolic bone diseases with abnormal mineralization of bone matrix caused by multiple etiology and different pathogenesis. The main manifestation is the lack of growth and mineralization of epiphyseal cartilage in children. It should be distinguished from osteomalacia, which is caused by the defective mineralization of new osteogenic matrix during bone reconstruction in adults. The aim of the treatment of limb deformity secondary to rickets is to correct the deformity, to restore the load line of the lower limb, to improve the function of the lower limb, and to improve their quality of life. Achondroplasia is an autosomal dominant hereditary disease due to a defect of endochondral ossification, which mainly affects the long bone. The clinical manifestation is a special type of dwarf, and they have good mental and physical development. Most of the patients died of stillbirth or neonate, and the parents of most of the patients were normal, suggesting that it may be the result of spontaneous gene mutation. The aim of treatment is to correct the deformity of lower extremity and improve limb function. Secondary knee and ankle deformities such as flexion, varus, and valgus of the two joints are the main causes of lower extremity dysfunction, which can be improved by orthopedic osteotomy. Melorheostosis is a rare and unknown bony sclerosing disease that can invade one side of the limb. It was first reported by Leri in 1928, also known as Leri’s disease. Because the hyperplastic bone flows from top to bottom along the backbone, like wax tears on the surface of a candle, it was also called wax tears like bone disease. Although this disease is a rare disorder of bone development, it can be diagnosed according to the characteristic changes of X-ray and pathological examinations. Osteopathy itself does not need to be treated, but the deformity caused by it often affects the motor function of lower extremities. Hemophilic arthropathy is a joint disease complicated with hemophilia and mainly hemarthrosis and ankylosis. It usually occurs in the joints with more movement and gravity, such as knee, ankle, elbow, and hip. Joint hemorrhage is the most common and characteristic hemorrhage. If the bleeding repeated so that the joint bleeding cannot be completely absorbed, causing chronic synovitis, articular cartilage degeneration and joint surface erosion, and result in joint stiffness, deformed contracture, disused muscle atrophy, and osteoporosis. For the treatment of hemophilia deformity, the cooperation between departments of hematology and orthopedic surgery is needed.