加巴喷丁治疗与GNAO1突变相关的严重不自主运动
GNAO1 mutation-related severe involuntary movements treated with gabapentin.
作者信息
Akasaka Manami, Kamei Atsushi, Tanifuji Sachiko, Asami Maya, Ito Jun, Mizuma Kanako, Oyama Kotaro, Tokutomi Tomoharu, Yamamoto Kayono, Fukushima Akimune, Takenouchi Toshiki, Uehara Tomoko, Suzuki Hisato, Kosaki Kenjiro
机构信息
Department of Pediatrics, School of Medicine, Iwate Medical University, Japan.
Department of Pediatrics, School of Medicine, Iwate Medical University, Japan.
出版信息
Brain Dev. 2021 Apr;43(4):576-579. doi: 10.1016/j.braindev.2020.12.002. Epub 2020 Dec 23.
BACKGROUND
Mutations in GNAO1 typically result in neurodevelopmental disorders, including involuntary movements. They may be improved using calcium-channel modulators.
CASE
The patient visited our hospital at age 2 years because of moderate global developmental delay. Her intermittent, generalized involuntary movements started at age 8 years. A de novo GNAO1 mutation, NM_020988.2:c.626G > A, (p.Arg209Cys), was identified by whole exome sequencing. At age 9 years, she experienced severe, intermittent involuntary movements, which led to rhabdomyolysis. She needed intensive care with administration of midazolam, dantrolene sodium hydrate, and plasma exchange. We started treating her with gabapentin (GBP), after which she recovered completely. At age 11 years, she developed continuous, generalized involuntary movements. This prompted us to increase the GBP dose, which again resolved the involuntary movements completely.
CONCLUSION
In the case of movement disorders associated with GNAO1 mutations, GBP treatment may be attempted before more invasive procedures are performed.
背景
GNAO1基因突变通常会导致神经发育障碍，包括不自主运动。使用钙通道调节剂可能会改善这些症状。
病例
该患者因中度全面发育迟缓于2岁时就诊于我院。她的间歇性全身性不自主运动始于8岁。通过全外显子组测序鉴定出一种新发的GNAO1突变，即NM_020988.2:c.626G>A，（p.Arg209Cys）。9岁时，她经历了严重的间歇性不自主运动，导致横纹肌溶解。她需要使用咪达唑仑、水合丹曲林和血浆置换进行重症监护。我们开始用加巴喷丁（GBP）对她进行治疗，之后她完全康复。11岁时，她出现持续性全身性不自主运动。这促使我们增加GBP剂量，这再次完全解决了不自主运动。
结论
对于与GNAO1突变相关的运动障碍病例，在进行更具侵入性的治疗之前，可以尝试GBP治疗。
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