Pediatric Neurology, Department of Neurosciences, Santobono-Pausilipon Children's Hospital, Naples, Italy.
Department of Advanced Medical and Surgical Sciences, Second Division of Neurology, University of Campania "Luigi Vanvitelli", Naples, Italy ; and.
J Clin Neuromuscul Dis. 2021 Dec 1;23(2):105-109. doi: 10.1097/CND.0000000000000379.
Guillain-Barré syndrome (GBS) is the broad term used to describe a number of related acute autoimmune neuropathies, which together form a continuous spectrum of variable and overlapping syndromes. Bifacial weakness with paresthesias (BFP) is a rare variant of GBS, characterized by isolated facial diplegia in the absence of ophthalmoplegia, ataxia, or limb weakness, and it is usually associated with distal limb paresthesias.
An 8-year-old boy was brought to our attention; because 5 days before coming to the hospital, he noticed he could no longer smile. Bilateral facial droop and inability to close both eyes were evident along with slight paresthesias at the hands and feet and gait disturbances. He progressively developed hypophonia, dysarthria, dysphagia associated with dysmetria, and limb ataxia. Nerve conduction studies showed a demyelinating polyneuropathy. Brain and spine magnetic resonance imaging (MRI) revealed contrast enhancement of both facial nerves and cauda equina nerve roots along with a hyperintense signal of the periaqueductal gray matter, superior cerebellar peduncles, and pontine tegmentum. Because BFP is not typically associated with other cranial neuropathies or ataxia, these clinical features along with peculiar MRI findings supported the diagnosis of "BFP plus." Finally, it can be speculated that this case configures a rare overlap between BFP and the other GBS variants, such as Bickerstaff encephalitis.
This atypical case underlines the potential role of MRI in contributing to refining the nosological classification of GBS spectrum and optimizing individual treatment, especially in children where unusual manifestations are not infrequent and neurological examination is more challenging.
吉兰-巴雷综合征（GBS）是一个广义术语，用于描述一系列相关的急性自身免疫性神经病，它们共同构成了一个具有不同和重叠症状的连续谱。以面部无力伴感觉异常为特征的吉兰-巴雷综合征（BFP）是一种罕见变异型，其特征为孤立性面部双侧弛缓性瘫痪，无眼肌瘫痪、共济失调或肢体无力，且通常伴有远端肢体感觉异常。
一名 8 岁男孩来我院就诊，5 天前他发现自己无法微笑。双侧面部下垂，双眼无法完全闭合，同时伴有手脚轻微感觉异常和步态障碍。他逐渐出现声音低沉、构音障碍、与失用症相关的吞咽困难以及肢体共济失调。神经传导研究显示脱髓鞘性多发性神经病。脑和脊柱磁共振成像（MRI）显示双侧面神经和马尾神经根增强，以及导水管周围灰质、小脑上脚和脑桥被盖部的高信号。由于 BFP 通常不伴有其他颅神经病或共济失调，这些临床特征以及特殊的 MRI 发现支持“BFP 伴发其他症状”的诊断。最后，可以推测本例是 BFP 与其他 GBS 变异型（如 Bickerstaff 脑炎）罕见重叠的一个例子。
这个非典型病例强调了 MRI 在促进 GBS 谱的分类学细化和优化个体化治疗中的潜在作用，尤其是在儿童中，不常见的表现并不罕见，神经检查更具挑战性。
