Miralbés Terraza S, García Oguiza A, López Pisón J, Sáenz Moreno I, Jiménez Escobar V, Peña Segura J L, Marco Rived A
Sección de Neuropediatría, Hospital Infantil Universitario Miguel Servet, Po. Isabel la Católica 1 y 3, Zaragoza, Spain.
An Pediatr (Barc). 2008 Mar;68(3):277-81. doi: 10.1157/13116710.
Type I Chiari malformation consists on the caudal displacement of cerebellar tonsils through the foramen magnum. It is often asymptomatic, although it may display symptoms as a result of cerebellum, brainstem, high cervical spinal cord or the lower cranial nerve, involvement.
We report our experience over the last 16 years. We have identified 16 patients with type I Chiari malformation. Only 2 cases showed common type I Chiari symptoms and just one had respiratory disorder as the first clinical sign.
A 15 year old girl presented with a 5 years' history of chronic daily cough aggravated by exercise. Snoring and sleep apnea had been noted by her mother for 1 year. The girl eventually suffered from migraine and diurnal hypersomnolence. The physical and neurological examination was normal with the only exception being the absence of bilateral nauseous reflex. A nocturnal polysomnography study demonstrated a pseudoperiodic pattern with apnea pauses associated to cycles of deep breathing, resulting in severe gasometric repercussion and bradycardia. Magnetic resonance imaging of the brain showed Chiari I malformation. Non-invasive mechanical ventilation treatment significantly improved the clinical symptoms and gasometric analysis.
Surgical posterior fossa decompression is discussed. Early decompression before appearance of irreversible neurological damage is recommended. It is associated with a significant reduction in the number of central apneas and sleep arousals. Surgical intervention is recommended in symptomatic patients and in cases of radiographic Chiari malformation or syrinx progression.
I型Chiari畸形表现为小脑扁桃体经枕骨大孔向尾端移位。它通常无症状，不过由于小脑、脑干、高颈段脊髓或低位颅神经受累，可能会出现症状。
我们报告过去16年的经验。我们确定了16例I型Chiari畸形患者。只有2例表现出常见的I型Chiari症状，仅有1例以呼吸障碍作为首发临床症状。
一名15岁女孩有5年慢性每日咳嗽病史，运动可使其加重。其母亲注意到她打鼾和睡眠呼吸暂停已有1年。该女孩最终出现偏头痛和日间嗜睡。体格检查和神经检查均正常，唯一例外是双侧恶心反射缺失。夜间多导睡眠图研究显示一种假周期性模式，呼吸暂停与深呼吸周期相关，导致严重的气体分析影响和心动过缓。脑部磁共振成像显示Chiari I畸形。无创机械通气治疗显著改善了临床症状和气体分析结果。
讨论了后颅窝减压手术。建议在出现不可逆神经损伤之前尽早减压。这与中枢性呼吸暂停和睡眠觉醒次数显著减少有关。对于有症状的患者以及影像学显示Chiari畸形或脊髓空洞症进展的病例，建议进行手术干预。
