Hsu LC, Chiang PY, Lin WP, Guo YH, Hsieh PC, Kuan TS, Lien WC, Lin YC. Botulinum toxin injection for Cockayne syndrome with muscle spasticity over bilateral lower limbs: A case report. World J Clin Cases 2021; 9(18): 4728-4733 [PMID: 34222439 DOI: 10.12998/wjcc.v9.i18.4728]
Corresponding Author of This Article
Yu-Ching Lin, MD, MSc, Associate Professor, Department of Physical Medicine and Rehabilitation, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, No. 138 Sheng-li Road, North District, Tainan 704, Taiwan. yuchinglin2011@gmail.com
Research Domain of This Article
Rehabilitation
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Lin-Chieh Hsu, Po-Ying Chiang, Wei-Pin Lin, Yao-Hong Guo, Pei-Chun Hsieh, Ta-Shen Kuan, Wei-Chih Lien, Yu-Ching Lin, Department of Physical Medicine and Rehabilitation, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan 704, Taiwan
Ta-Shen Kuan, Yu-Ching Lin, Department of Physical Medicine and Rehabilitation, College of Medicine, National Cheng Kung University, Tainan 704, Taiwan
Yu-Ching Lin, Medical Device Innovation Center, National Cheng Kung University, Tainan 704, Taiwan
Author contributions: Hsu LC and Chiang PY collected the medical history, performed the physical examination, and image data from the patient and wrote the main content of the manuscript; Lin WP, Guo YH, Hsieh PC, Kuan TS and Lien WC were involved in the manuscript writing and revision; Lin YC provided guidance on writing and revision of the manuscript; Hsu LC and Chiang PY contributed equally to the manuscript.
Informed consent statement: Informed consent was obtained from the patient and her parents.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Yu-Ching Lin, MD, MSc, Associate Professor, Department of Physical Medicine and Rehabilitation, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, No. 138 Sheng-li Road, North District, Tainan 704, Taiwan. yuchinglin2011@gmail.com
Received: September 30, 2020 Peer-review started: September 30, 2020 First decision: December 13, 2020 Revised: December 16, 2020 Accepted: February 1, 2021 Article in press: February 1, 2021 Published online: June 26, 2021 Processing time: 254 Days and 7.6 Hours
Abstract
BACKGROUND
Cockayne syndrome (CS) is a rare inherited disease characterized by progressive motor symptoms including muscle weakness, joint contracture, ataxia, and spasticity. Botulinum neurotoxin type A has been used for conditions such as dystonia and spasticity, but it has rarely been used in patients with CS.
CASE SUMMARY
We report a 6-year-and-9-mo old girl diagnosed with CS who received an injection of botulinum neurotoxin type A to manage her difficulty with walking. A total dose of 210 units of botulinum neurotoxin type A was administered into the bilateral tibialis posterior and gastrocnemius muscles. To evaluate the treatment effects on spasticity, joint contracture, pain, and ataxia, measurement tools including the Modified Ashworth Scale, the passive range of motion, the Faces Pain Scale-Revised, and the Scale for the Assessment and Rating of Ataxia, were employed. The first week after the injection, the Modified Ashworth Scale score for the plantar flexors and foot invertors improved bilaterally, along with advancements in the passive range of motion of the bilateral ankles and a lower score for the Faces Pain Scale-Revised. These treatment effects persisted to the 8th week post-injection, but returned to baseline values at the 12th week post-injection, except for the pain scale.
CONCLUSION
Botulinum toxin injection can thus be considered as a treatment option for lower extremity spasticity, joint contracture, and pain derived from CS.
Core Tip: Cockayne syndrome (CS) is a rare inherited disease, and symptoms such as spasticity in CS are uncommon. No studies in the literature have addressed the effect of botulinum toxin injection in managing gait problems and spasticity in patients with CS. In this article, we report a patient aged 6 years and 9 mo with CS who responded well to botulinum toxin type A administration.
