Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, The Netherlands.
Eur J Neurol. 2010 Jun 1;17(6):815-22. doi: 10.1111/j.1468-1331.2009.02927.x. Epub 2010 Jan 25.
Neuroimaging of the brain in the diagnostic work-up of patients with neurodevelopmental disorders is a matter of continuing debate. Recommendations range from performing brain imaging in all patients with neurodevelopmental disorders to performing an MRI only in those with indication on clinical examinations. Important indications for neuroimaging are head size abnormalities and focal neurological findings.
Patients with neurodevelopmental disorders of unknown origin (n = 410), referred to a specialized tertiary diagnostic center for neurodevelopmental disorders were included in a retrospective analysis. A 1-day work-up, including an MRI of the brain was performed. Studied were the: (i) yield of MRI scans of the brain and (ii) associations of specific clinical symptoms/signs with abnormal and diagnostic MRI scans.
(i) In 30.7% of the 410 patients with neurodevelopmental disorders (n = 126), abnormal MRI scans were observed, leading to an etiological diagnosis in 5.4% of the patients (n = 22). (ii) Pyramidal disorders (P = 0.001), epilepsy (P = 0.04) and an abnormal head circumference (P = 0.02) were associated with an abnormal MRI scan. The presence of one of the following neurological symptoms/signs: movement disorders, pyramidal disorders, epilepsy, or an abnormal head circumference was associated with a diagnostic MRI scan (P < 0.001) (diagnostic MRI % in neurological versus no neurological symptoms/signs, 13.0% versus 1.9%).
Neuroimaging of the brain in a tertiary care center for patients with neurodevelopmental disorders of unknown origin is useful, especially in case of neurological symptoms/signs.
在神经发育障碍患者的诊断工作中，对大脑进行神经影像学检查是一个持续存在争议的问题。建议范围从对所有神经发育障碍患者进行脑部成像检查到仅对临床检查有指征的患者进行 MRI 检查。神经影像学检查的重要指征是头围大小异常和局灶性神经学发现。
我们对不明原因的神经发育障碍患者（n=410）进行了回顾性分析，这些患者被转诊至专门的神经发育障碍三级诊断中心。所有患者都进行了为期 1 天的检查，包括脑部 MRI。研究内容包括：（i）脑部 MRI 的检出率；（ii）特定临床症状/体征与异常和诊断性 MRI 扫描之间的相关性。
（i）在 410 名神经发育障碍患者（n=126）中，有 30.7%的患者出现异常 MRI 扫描，其中 5.4%的患者（n=22）的病因诊断得到了证实。（ii）锥体束障碍（P=0.001）、癫痫（P=0.04）和头围异常（P=0.02）与异常 MRI 扫描有关。存在运动障碍、锥体束障碍、癫痫或头围异常等一种神经症状/体征与诊断性 MRI 扫描有关（P<0.001）（神经症状/体征患者与无神经症状/体征患者的诊断性 MRI 扫描比例分别为 13.0%和 1.9%）。
在三级神经发育障碍患者的诊疗中心，对神经发育障碍病因不明的患者进行脑部神经影像学检查是有用的，特别是在存在神经症状/体征的情况下。
