López-Hernández J C, Bazán-Rodríguez L, Pérez-Torres T, Delgado-García G, García-Trejo S, Cervantes-Uribe R, Jorge-de Saráchaga A, León-Manríquez E, Vargas-Cañas E S
Instituto Nacional de Neurología y Neurocirugía Dr. Manuel Velasco Suárez, Ciudad de México, México.
Rev Neurol. 2021 Feb 1;72(3):85-91. doi: 10.33588/rn.7203.2020126.
Vulpian-Bernhardt syndrome (VBS) is an atypical rare clinical phenotype of amyotrophic lateral sclerosis (ALS) that causes a significant delay in diagnosis, and thus it is important to recognise its clinical and electrophysiological features.
Retrospective cross-sectional study. We reviewed the clinical records of patients diagnosed with ALS in the period from January to December 2019. Those meeting criteria for VBS were included so as to describe their frequency as well as their clinical and electrophysiological features.
Twenty patients (15.8%) met criteria for VBS; 55% were female; age at onset of symptoms was 46.6 ± 12.9 years; 40% were smokers; median delay in diagnosis was 24 (12-96) months; median time to involvement of the second body segment was 24 (12-132) months, which was lumbosacral in 65%; mean Revised Amyotrophic Lateral Sclerosis Functional Rating Scale score was 27 ± 7 points; 45% met the El Escorial criteria for ALS defined at diagnosis and 58.8% met the Awaji criteria. There were 19 nerve conduction studies and 17 electromyograms, and an abductor digiti minimi-abductor pollicis brevis (ADM/APB) ratio < 0.6 was found in 63% (split hand).
There is a significant delay in the diagnosis of motor neuron diseases in general and more particularly in VBS. Calculating the ADM/APB ratio and applying the Awaji criteria in the electrophysiology study can be a valuable aid to increase diagnostic certainty in this clinical entity.
维尔皮安 - 伯恩哈特综合征（VBS）是肌萎缩侧索硬化症（ALS）的一种非典型罕见临床表型，会导致诊断显著延迟，因此识别其临床和电生理特征很重要。
回顾性横断面研究。我们查阅了2019年1月至12月期间被诊断为ALS的患者的临床记录。纳入符合VBS标准的患者，以描述其发生率以及临床和电生理特征。
20例患者（15.8%）符合VBS标准；55%为女性；症状出现时的年龄为46.6±12.9岁；40%为吸烟者；诊断的中位延迟时间为24（12 - 96）个月；第二个身体节段受累的中位时间为24（12 - 132）个月，其中65%为腰骶部；修订的肌萎缩侧索硬化症功能评定量表平均得分为27±7分；45%在诊断时符合埃尔埃斯科里亚尔ALS标准，58.8%符合阿波标准。进行了19次神经传导研究和17次肌电图检查，63%（手部肌肉分裂）发现小指展肌 - 拇短展肌（ADM/APB）比值<0.6。
一般运动神经元疾病的诊断存在显著延迟，VBS尤其如此。在电生理研究中计算ADM/APB比值并应用阿波标准有助于提高对这一临床实体诊断的确定性。
