Department of Paediatric Rheumatology, University College London Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Imperial College School of Medicine, Imperial College London, London, UK.
Pediatr Rheumatol Online J. 2021 Mar 23;19(1):42. doi: 10.1186/s12969-021-00512-6.
The aim of this study was to: (i) describe the abnormalities seen on brain imaging in a group of children with en coup de sabre (EDCS) with/without Parry-Romberg syndrome (PRS); and (ii) identify clinical predictors of brain imaging abnormalities.
This was a single centre (Great Ormond Street Hospital, London) retrospective case series of patients with ECDS/PRS seen from 2000 to 2018. We identified patients with cutaneous manifestations consistent with the clinical descriptions of ECDS/PRS. Presenting clinical, laboratory, and radiological brain findings are described. Results are expressed as medians and ranges or frequencies and percentages. Fisher's exact test was used to identify clinical associations with magnetic resonance imaging (MRI) abnormalities.
Fourteen patients were studied: 6 males and 8 females; median age 14 years (range 3-20). We observed neuroimaging abnormalities in 2/6 ECDS and 5/8 ECDS/PRS patients. White matter signal abnormality, dystrophic calcification, leptomeningeal enhancement, and sulcal crowding were the typical findings on brain imaging. A total of 50% of patients had no MRI abnormality despite some of these patients having neurological symptoms. The presence of seizures was significantly associated with ipsilateral enhanced white matter signalling on MRI (p < 0.05).
In summary, we observed several distinct radiographic patterns associated with ECDS/PRS. Seizure disorder was strongly associated with the presence of ipsilateral enhanced white matter signalling. Improved neuroimaging techniques that combine morphological with functional imaging may improve the detection rate of brain involvement in children with ECDS/PRS in the future.
本研究旨在：（i）描述一组伴有/不伴有 Parry-Romberg 综合征（PRS）的 en coup de sabre（EDCS）患儿的脑部影像学异常；（ii）确定脑部影像学异常的临床预测因子。
这是一项 2000 年至 2018 年在伦敦大奥蒙德街医院进行的单中心回顾性病例系列研究。我们鉴定了具有符合 EDCS/PRS 临床描述的皮肤表现的患者。描述了患者的临床表现、实验室检查和脑部影像学结果。结果表示为中位数和范围或频率和百分比。Fisher 确切检验用于确定与磁共振成像（MRI）异常相关的临床关联。
共研究了 14 名患者：6 名男性和 8 名女性；中位年龄 14 岁（范围 3-20 岁）。我们观察到 2/6 的 EDCS 和 5/8 的 EDCS/PRS 患者存在神经影像学异常。脑白质信号异常、营养不良性钙化、软脑膜强化和脑沟拥挤是脑部影像学的典型表现。尽管部分患者有神经系统症状，但仍有 50%的患者 MRI 无异常。癫痫发作的存在与 MRI 同侧增强白质信号显著相关（p<0.05）。
总之，我们观察到了一些与 EDCS/PRS 相关的不同的影像学模式。癫痫发作与同侧增强白质信号的存在密切相关。未来，结合形态学与功能成像的改进神经影像学技术可能会提高 EDCS/PRS 患儿脑部受累的检出率。
