Kamada Satoshi, Shiota Etsuji, Yamashita Toshiyuki, Kiyama Takahiko, Saeki Kazuhiko, Maeyama Akira, Yamamoto Takuaki
Department of Rehabilitation Medicine, Fukuoka University Hospital, Fukuoka, Japan.
Department of Orthopaedic Surgery, Fukuoka University Faculty of Medicine, Fukuoka, Japan.
Prog Rehabil Med. 2019 Jun 12;4:20190012. doi: 10.2490/prm.20190012. eCollection 2019.
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.
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.
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.
歌舞伎综合征是一种罕见的先天性综合征。患有歌舞伎综合征的个体存在智力障碍，常伴有骨骼异常和关节松弛。我们在此报告首例歌舞伎综合征患者髌股内侧韧带重建后的康复病例。
一名27岁患有歌舞伎综合征且有严重智力障碍的女性在癫痫发作时摔倒。右髌骨脱位后又自行复位；类似发作反复出现。进行了髌股内侧韧带重建和外侧支持带松解术。尽管有强化康复方案，但由于患者严重的智力障碍以及不愿参与康复锻炼，其术后日常生活活动（ADL）并未迅速改善。术后约3个月，工作人员鼓励患者从轮椅转移至汽车，在稍作协助下她能够进入汽车。随后，患者的ADL逐渐改善。术后约1年，患者能够独立行走数米。
该患者被认为对汽车和乘车出行感兴趣。对于严重发育障碍患者，改善ADL的康复训练应包括患者感兴趣的活动。
