肉毒杆菌毒素治疗 Lesch-Nyhan 病自咬行为的安全性和有效性。

Safety and Efficacy of Botulinum Toxin in the Treatment of Self-Biting Behavior in Lesch-Nyhan Disease.

机构信息

Department of Pediatric Neurology, Hospital Universitario La Paz, Madrid, Spain.

Department of Biochemistry, La Paz University Hospital Health Research Institute (FIBHULP), IdiPaz, and Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain; Hospital Universitario La Paz, Madrid, Spain.

出版信息

Pediatr Neurol. 2022 Feb;127:6-10. doi: 10.1016/j.pediatrneurol.2021.10.018. Epub 2021 Nov 1.

DOI:10.1016/j.pediatrneurol.2021.10.018

PMID:34891105

Abstract

BACKGROUND

Lesch-Nyhan disease (LND) is a disease of purine metabolism linked to chromosome X due to the absence or near-absence of enzyme hypoxanthine-guanine phosphoribosyltransferase. Patients with LND have a compulsive autoaggressive behavior that consists of self-mutilation by biting.

METHODS

The objective of this study was to explore the safety and efficacy of botulinum toxin (BoNT) injected into the masticatory muscles and biceps brachii to reduce self-mutilation in patients with LND. We retrospectively analyzed six patients with LND who were treated with BoNT to prevent automutilatory behavior.

RESULTS

The patient ages when started on treatment with BoNT were 4, 4.5, 6.6, 7.9, 13.9, and 32.3 years. Patients received a mean number of injections of 20, ranging from 3 to 29, over a period that ranged from 1.5 to 7.1 years. The maximum total dose of Botox was 21.3 units/kg mean and the maximum total dose of Dysport was 37.5 units/kg mean. A total of 119 injections were performed. Of these 113 (95%) were partially or completely effective. Only three of 119 injections (2.5%) produced adverse effects.

CONCLUSIONS

Botulinum toxin is useful and safe for the treatment of self-biting behavior in patients with LND.

摘要

背景

Lesch-Nyhan 病（LND）是一种嘌呤代谢疾病，与 X 染色体有关，由于缺乏或几乎缺乏酶次黄嘌呤-鸟嘌呤磷酸核糖基转移酶。LND 患者有一种强迫性的自伤行为，包括咬自己。

方法

本研究的目的是探讨将肉毒毒素（BoNT）注射到咀嚼肌和肱二头肌中以减少 LND 患者自伤的安全性和有效性。我们回顾性分析了 6 例接受 BoNT 治疗以预防自伤行为的 LND 患者。

结果

开始接受 BoNT 治疗的患者年龄分别为 4、4.5、6.6、7.9、13.9 和 32.3 岁。患者平均接受了 20 次注射，范围为 3 至 29 次，治疗时间为 1.5 至 7.1 年。肉毒毒素的最大总剂量为 21.3 单位/公斤，Dysport 的最大总剂量为 37.5 单位/公斤。共进行了 119 次注射。其中 113 次（95%）部分或完全有效。119 次注射中只有 3 次（2.5%）产生不良反应。