Department of Radiology Department, King Fahad Military Medical Complex, Dhahran, Kingdom of Saudi Arabia.
Neurosciences (Riyadh). 2020 Oct;25(5):392-398. doi: 10.17712/nsj.2020.5.20200072.
To evaluate diagnostic capability of brain magnetic resonance imaging (MRI) in detection of inherited neurometabolic disorders.
This retrospective observational study was performed in Radiology Department at our Hospital in Dhahran, from January 2013 to January 2020. We evaluated brain MRIs of children (under 5) who were referred to pediatric neurology for clinical suspicion of neuro-developmental delay and metabolic disease. Known perinatal ischemia and birth trauma cases were excluded. Imaging criteria included: (i) bilateral symmetric white matter signal abnormality, (ii) diffusion restriction affecting bilateral deep grey nuclei with or without brainstem involvement, (iii) brain atrophy or edema with abnormal white matter signal, (iv) characteristic MR spectroscopic finding. Presence of any one of these findings was considered positive for neurometabolic disease. Two neuroradiologists interpreted MRIs with substantial interobserver agreement. Diagnoses were confirmed on biochemical/ metabolic screening and genetic testing. A 2 x 2 contingency table was used for results. Chi square test was used to determine association.
Out of 133 cases, 72 (49 males, 90% AR) were found to have neurometabolic disorders. Sensitivity, specificity, positive and negative predictive values were calculated as 81.94% (CI, 71.11-90.02), 67.21% (CI, 54.00-78.69), 74.68% (CI, 66.96-81.11) and 75.93% (CI, 65.16-84.17) respectively. Findings were found significant (p-value=0.0001).
Brain MRI can help to predict inherited neurometabolic disorders considering certain findings.
评估脑磁共振成像（MRI）在遗传性神经代谢疾病诊断中的能力。
这是一项在沙特达兰我院放射科进行的回顾性观察研究，时间为 2013 年 1 月至 2020 年 1 月。我们评估了因疑似神经发育迟缓及代谢性疾病而转诊至儿科神经科的儿童（5 岁以下）的脑部 MRI。已知围产期缺血和出生创伤病例除外。影像学标准包括：（i）双侧对称的脑白质信号异常；（ii）双侧深部灰质弥散受限，伴或不伴脑干受累；（iii）脑萎缩或水肿伴异常脑白质信号；（iv）特征性磁共振波谱学发现。存在上述任何一种发现均被认为与神经代谢性疾病相关。两位神经放射科医生对 MRI 进行了具有高度观察者间一致性的解读。通过生化/代谢筛查和基因检测来确认诊断。使用 2x2 列联表来呈现结果。使用卡方检验来确定关联。
在 133 例患者中，72 例（49 例男性，90% 为常染色体隐性遗传）被诊断为神经代谢性疾病。敏感性、特异性、阳性预测值和阴性预测值分别为 81.94%（95%CI，71.11-90.02）、67.21%（95%CI，54.00-78.69）、74.68%（95%CI，66.96-81.11）和 75.93%（95%CI，65.16-84.17）。这些发现具有统计学意义（p 值=0.0001）。
考虑到某些发现，脑部 MRI 有助于预测遗传性神经代谢疾病。
