关键词: Charcot-Marie-Tooth disease (CMT) Hess screen test amblyopia oculomotor palsy pediatric ophthalmology pupillometry strabismus video oculography (VOG)

来  源:   DOI:10.3389/fopht.2021.748589   PDF(Pubmed)

Abstract:
Oculomotor palsy with cyclic spasms is an extremely rare condition whose exact pathophysiology remains a mystery. We followed a boy from the onset of symptoms at the age of ten months until 15 years and documented the case with video oculography. In addition, he was diagnosed with hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease type 1). Although a pure coincidence cannot be ruled out, it is conceivable that the underlying demyelinating neuropathy of this patient rendered the oculomotor nerve more susceptible to damage.
摘要:
伴有周期性痉挛的动眼神经麻痹是一种极为罕见的疾病,其确切的病理生理学仍然是个谜。我们跟踪了一个男孩,从10个月大的症状发作到15岁,并用视频眼图记录了该病例。此外,他被诊断为遗传性运动和感觉神经病(Charcot-Marie-Tooth病1型)。虽然不能排除纯粹的巧合,可以想象,该患者的潜在脱髓鞘神经病使动眼神经更容易受到损害。
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