黏多糖贮积症VI型（马罗托-拉米综合征）中的半面痉挛。
Hemifacial Spasm in Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome).
作者信息
Karir Aneesh, Geraghty Michael, Vassilyadi Michael, Doja Asif
机构信息
University of Ottawa Faculty of Medicine, Ottawa, ON, Canada.
Division of Metabolics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
出版信息
Tremor Other Hyperkinet Mov (N Y). 2018 Jun 1;8:548. doi: 10.7916/D8SX7WFQ. eCollection 2018.
BACKGROUND
Hemifacial spasms are involuntary contractions of the muscles of one side of the face.
CASE REPORT
Here, we report a 5-year-old female patient with a significant past medical history, including mucopolysaccharidosis type VI, who also presented with hemifacial spasms. Further investigations showed narrowing of skull foramina and hydrocephalus, but no compression of the facial nerve. Carbamazepine was given to the patient, which caused cessation of the spasms.
DISCUSSION
Currently, there is no literature discussing the relationship between hemifacial spasms and mucopolysaccharidosis type VI; we have proposed that mucopolysaccharide deposits or dural thickening may contribute to nerve irritation.
背景
半面痉挛是一侧面部肌肉的不自主收缩。
病例报告
在此，我们报告一名5岁女性患者，其有重要的既往病史，包括VI型黏多糖贮积症，该患者也出现了半面痉挛。进一步检查显示颅骨孔道狭窄和脑积水，但面神经无受压。给予患者卡马西平后，痉挛停止。
讨论
目前，尚无文献讨论半面痉挛与VI型黏多糖贮积症之间的关系；我们提出黏多糖沉积或硬脑膜增厚可能导致神经刺激。
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