Pinto Wladimir B V R, Farias Igor Braga, Badia Bruno de Mattos Lombardi, Libardi Silva Luiz Henrique, Yanagiura Mario Teruo, Chieia Marco Antônio Troccoli, Souza Paulo Victor Sgobbi de, Oliveira Acary Souza Bulle
Neurology and Neurosurgery, UNIFESP - Federal University of São Paulo, Sao Paulo, Brazil
Neurology and Neurosurgery, UNIFESP - Federal University of São Paulo, Sao Paulo, Brazil.
Pract Neurol. 2019 Oct;19(5):424-426. doi: 10.1136/practneurol-2018-002188. Epub 2019 Apr 24.
Atypical motor neurone disease (MND) represents a challenging and expanding group of neurodegenerative disorders involving the upper or lower motor neurones, and rarely both. Neuro-ophthalmological disturbances such as gaze-evoked downbeat nystagmus are extremely rare in the context of typical and atypical MND. Finger extension weakness and downbeat nystagmus motor neurone disease (FEWDON-MND) syndrome has been recently recognised as a distinct syndromic phenotype of MND, with a characteristic clinical picture. We describe a 63-year-old woman with long-standing lower motor neurone involvement of the upper limbs, who on examination had gaze-evoked downbeat nystagmus. After extensive negative investigation for secondary causes of MND and downbeat nystagmus, we diagnosed FEWDON-MND syndrome.
非典型运动神经元病(MND)是一组具有挑战性且不断扩大的神经退行性疾病,累及上运动神经元或下运动神经元,很少累及两者。在典型和非典型MND的背景下,诸如凝视诱发的下跳性眼球震颤等神经眼科障碍极为罕见。手指伸展无力和下跳性眼球震颤运动神经元病(FEWDON-MND)综合征最近被认为是MND的一种独特的综合征表型,具有特征性的临床表现。我们描述了一名63岁女性,长期存在上肢下运动神经元受累,检查时发现有凝视诱发的下跳性眼球震颤。在对MND和下跳性眼球震颤的继发原因进行广泛的阴性检查后,我们诊断为FEWDON-MND综合征。