Patellar Dislocation in a Patient with Kabuki Syndrome with Severe Mental Retardation: A Case Report

Background: Kabuki syndrome is a rare congenital syndrome. Individuals with Kabuki syndrome have intellectual disabilities, often combined with skeletal anomalies and joint laxity. We herein report the first case of rehabilitation after reconstruction of the medial patellofemoral ligament in a patient with Kabuki syndrome.

Case: A 27-year-old woman with Kabuki syndrome and severe intellectual disability fell during an epileptic seizure. The right patella dislocated and then spontaneously reduced; similar episodes occurred repeatedly. Reconstruction of the medial patellofemoral ligament and lateral retinacular release were performed. Despite an intensive rehabilitation protocol, the patient's activities of daily living (ADL) did not quickly improve postoperatively because of her severe intellectual impairment and unwillingness to participate in rehabilitation exercises. About 3 months postoperatively, staff encouraged the patient to transfer from a wheelchair to a car, and she was able to get into the car with a little assistance. Subsequently, the patient's ADL gradually improved. By approximately 1 year postoperatively, the patient was able to ambulate independently for a few meters.

Discussion: The patient was thought to be interested in cars and in going for drives. Rehabilitation training for ADL improvement in patients with severe developmental disorders should include activities that the patients consider interesting.

Keywords: Kabuki syndrome; mental retardation; patellar dislocation.