Department of Neurosurgery, Birmingham Children's Hospital, Birmingham, West Midlands, UK.
Childs Nerv Syst. 2021 Feb;37(2):367-374. doi: 10.1007/s00381-020-04934-7. Epub 2020 Oct 20.
Pfeiffer syndrome (PS) is a rare autosomal dominant craniofacial disorder characterized by primary craniosynostosis, midface hypoplasia, and extremities' abnormalities including syndactyly. The purpose of this article was to review the current knowledge regarding how PS affects the nervous system. Methodologically, we conducted a systematic review of the existing literature concerning involvement of the nervous system in PS. Multiple-suture synostosis is common, and it is the premature fusion and abnormal growth of the facial skeleton's bones that cause the characteristic facial features of these patients. Brain abnormalities in PS can be primary or secondary. Primary anomalies are specific developmental brain defects including disorders of the white matter. Secondary anomalies are the result of skull deformity and include intracranial hypertension, hydrocephalus, and Chiari type I malformation. Spinal anomalies in PS patients include fusion of vertebrae, "butterfly" vertebra, and sacrococcygeal extension. Different features have been observed in different types of this syndrome. Cloverleaf skull deformity characterizes PS type II. The main neurological abnormalities are mental retardation, learning difficulties, and seizures. The tricky neurological examination in severely affected patients makes difficult the early diagnosis of neurological and neurosurgical complications. Prenatal diagnosis of PS is possible either molecularly or by sonography, and the differential diagnosis includes other craniosynostosis syndromes. Knowing how PS affects the nervous system is important, not only for understanding its pathogenesis and determining its prognosis but also for the guidance of decision-making in the various critical steps of its management. The latter necessitates an experienced multidisciplinary team.
Pfeiffer 综合征（PS）是一种罕见的常染色体显性颅面发育障碍，其特征为原发性颅缝早闭、面中部发育不全和四肢异常，包括并指畸形。本文旨在综述 PS 对神经系统影响的现有知识。方法上，我们对有关 PS 神经系统受累的现有文献进行了系统回顾。多缝融合很常见，正是由于面部骨骼过早融合和异常生长，导致了这些患者具有特征性的面部特征。PS 中的脑异常可以是原发性的，也可以是继发性的。原发性异常是特定的发育性脑缺陷，包括白质疾病。继发性异常是颅骨畸形的结果，包括颅内压升高、脑积水和 Chiari Ⅰ型畸形。PS 患者的脊柱异常包括椎体融合、“蝴蝶”椎和骶尾部延伸。不同类型的 PS 观察到不同的特征。II 型 PS 表现为三叶形颅骨畸形。主要的神经异常包括智力障碍、学习困难和癫痫。严重受影响患者的棘手神经检查使得早期诊断神经和神经外科并发症变得困难。PS 的产前诊断可以通过分子或超声进行，鉴别诊断包括其他颅缝早闭综合征。了解 PS 如何影响神经系统不仅对于理解其发病机制和确定其预后很重要，而且对于指导其管理的各个关键步骤的决策也很重要。后者需要一个经验丰富的多学科团队。
