家族性上斜肌发育不全的磁共振成像表现。
MR imaging of familial superior oblique hypoplasia.
机构信息
Department of Radiology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam, Korea.
出版信息
Br J Ophthalmol. 2010 Mar;94(3):346-50. doi: 10.1136/bjo.2009.161398. Epub 2009 Oct 12.
BACKGROUND
Congenital superior oblique palsy is usually associated with a structural abnormality of the superior oblique tendon. There have been many reports of familial congenital superior oblique palsy. However, there has been no MRI documentation of familial superior oblique hypoplasia.
METHODS
Ophthalmological examination and orbital MRI were performed in three patients in a pedigree with familial superior oblique palsy. They showed typical signs of superior oblique palsy, including superior oblique underaction and overelevation in adduction on the affected side, torticollis in the early part of life, and positive head tilt testing.
RESULTS
Moderate to severe superior oblique hypoplasia was identified in all three affected family members.
CONCLUSION
Superior oblique hypoplasia confirmed with MRI was useful for clarifying the aetiology of familial superior oblique palsy.
背景
先天性上斜肌麻痹通常与上斜肌腱的结构异常有关。家族性先天性上斜肌麻痹已有很多报道。然而，家族性上斜肌发育不良尚无 MRI 记录。
方法
对一个家族性上斜肌麻痹家系中的 3 名患者进行眼科检查和眼眶 MRI 检查。他们表现出典型的上斜肌麻痹体征，包括受累侧上斜肌功能不足和内收时上斜肌过度抬高、生命早期斜颈以及头倾斜试验阳性。
结果
所有 3 名受累家庭成员均存在中重度上斜肌发育不良。
结论
MRI 证实的上斜肌发育不良有助于阐明家族性上斜肌麻痹的病因。
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