両膝高度屈曲拘縮により歩行不能であったBeals症候群の1例

抄録

Beals syndrome (congenital contractural arachnodactyly) is an autosomal dominant disorder characterized by multiple joint contracture, long arms and legs, arachnodactyly, crumpled ears, and scoliosis. We surgically treated a Beals syndrome patient with severe flexion contracture of both knee joints. The patient was a 3-year-old boy who could not walk in an upright position because of severe flexion contracture of both knee joints. Conservative treatment including physical therapy and application of braces was not successful. We performed surgical correction of contracture including skin release, tendon elongation of knee flexors, the posterior thigh flap (6×4 cm for the left popliteal defect) and venoneuroadipofascial flap (6×4 cm for the right popliteal defect). After skin release and tendon elongation, both knees could not be straightened because of tightness of the neurovascular bundle. Pins and plaster fixation were applied in both knees to maintain the flexed position. The Ilizarov external fixator replaced pins and plaster fixation one month after the operation. Both knees were gradually extended with telescopic rods. The Ilizarov external fixators wree removed after 2 months. The quadriceps strength of both knees was weak (MMT1) but gradually improved by rehabilitation. After 1 year and 9 months, he could walk in an upright position without any support. Quadriceps strength improved to MMT4 and the range of motion improved to extention −25 degrees and flexion 115 degrees.