Department of Pediatrics, St Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, PA, USA.
Eur J Paediatr Neurol. 2011 Jul;15(4):303-9. doi: 10.1016/j.ejpn.2011.04.001. Epub 2011 May 10.
We report the case of a previously healthy 4 year-old African American female who presented to the emergency department with acute onset of unilateral abducens nerve palsy and torticollis. Within 12 h of presentation, the patient's symptoms progressed to include ipsilateral facial nerve palsy and gait ataxia. On exam, the patient demonstrated right cranial nerve VI and VII palsies, ataxic gait with left lateropulsion, spasticity of bilateral lower extremities with clonus, and the presence of bilateral Babinski sign. MRI of the brain and spinal cord revealed severe Chiari I malformation with associated extensive holochord syringomyelia and syringobulbia. The patient underwent successful surgical decompression 72 h after initial presentation. We review the literature on Chiari malformations and syringomyelia, including epidemiology, presentation and neurological manifestations, and treatment recommendations. As our patient had a very acute presentation, we additionally review the previously reported cases of acute and atypical presentation of patients with Chiari I malformation and syringomyelia. The aim of this report is to make practitioners aware of the acuteness with which children with Chiari malformation type I with syringomyelia and syringobulbia can present.
我们报告了一例先前健康的 4 岁非裔美国女性病例，她因单侧展神经麻痹和斜颈急性发作而到急诊就诊。在出现症状后 12 小时内，患者的症状进展为同侧面神经麻痹和步态共济失调。体格检查显示患者存在右侧第 VI 和第 VII 颅神经麻痹、左侧向侧方推动的共济失调步态、双侧下肢痉挛、双侧巴氏征阳性。脑和脊髓 MRI 显示严重的 Chiari I 畸形，伴有广泛的全脊髓空洞症和延髓空洞症。患者在初次就诊后 72 小时成功接受了手术减压。我们回顾了 Chiari 畸形和脊髓空洞症的文献，包括流行病学、表现和神经学表现以及治疗建议。由于我们的患者表现出非常急性的症状，我们还回顾了以前报道的 Chiari I 畸形和脊髓空洞症患者急性和非典型表现的病例。本报告的目的是让临床医生意识到 Chiari 畸形 I 型伴脊髓空洞症和延髓空洞症患儿表现出的急性程度。
