Talamonti Giuseppe, Marcati Eleonora, Gribaudi Giulia, Picano Marco, D'Aliberti Giuseppe
Department of Neurosurgery, ASST Niguarda, P.za Ospedale Maggiore 3, 20162, Milan, Italy.
Childs Nerv Syst. 2020 May;36(5):899-909. doi: 10.1007/s00381-020-04540-7. Epub 2020 Feb 13.
To review the literature about the acute presentation of Chiari 1 malformation in children, with a focus on acute cervical cord syndromes with impairment of the cortico-spinal tract. To analyze the possible precipitating factors and the pathophysiology of the acute onset.
Illustrative case presentation with literature review.
The literature includes just a few dozens of children with acute presentation of Chiari 1 malformation. The more frequent presentations consist of oropharyngeal dysfunction, cranial nerve impairment, high intracranial pressure, peripheral motor deficit. Acute impairment of cervical long tracts is very rare and we could find only 16 previously reported cases of cervical cord impairment with quadriparesis or hemiparesis.
Nowadays, a lot of asymptomatic Chiari 1 malformations are frequently observed owing to the wide diffusion of magnetic resonance imaging. This raised the question about the management of these patients. Despite severe and even lethal manifestations being reported in previously asymptomatic patients, the absolute rarity of acute deterioration does not justify prophylactic surgery. The diagnosis of Chiari malformation may be initially difficult in patients with isolated, acute, and unusual presentations but physicians should bear in mind its possibility, because prompt cranio-cervical decompression may be decisive.
回顾有关儿童Chiari 1畸形急性表现的文献，重点关注伴有皮质脊髓束损伤的急性颈髓综合征。分析急性发作的可能诱发因素和病理生理学。
通过病例展示并结合文献回顾。
文献中仅有几十例儿童出现Chiari 1畸形的急性表现。较常见的表现包括口咽功能障碍、颅神经损伤、高颅内压、周围运动功能缺损。颈长束的急性损伤非常罕见，我们仅能找到16例先前报道的伴有四肢瘫或偏瘫的颈髓损伤病例。
如今，由于磁共振成像的广泛应用，经常观察到许多无症状的Chiari 1畸形。这引发了关于这些患者管理的问题。尽管先前无症状的患者有严重甚至致命表现的报道，但急性恶化的绝对罕见性并不足以证明预防性手术的合理性。对于表现为孤立、急性和不寻常症状的患者，最初可能难以诊断Chiari畸形，但医生应牢记其可能性，因为及时的颅颈减压可能起决定性作用。
