在患有X连锁肾上腺脑白质营养不良的男孩中,一个子集将发展为儿童脑肾上腺脑白质营养不良(CCALD)。在症状发作之前或之后不久,如果没有造血干细胞移植,CCALD通常是致命的。我们试图建立基于证据的指南,详细说明患有神经无症状性肾上腺脑白质营养不良的男孩的神经影像学监测。
为CCALD建立最常见的年龄和诊断神经影像学模式,我们完成了1970年1月1日至2019年9月10日发表的相关研究的荟萃分析.我们使用共识开发会议方法将所得数据纳入指南,以告知神经影像学监测的时机和技术。最终指南协议定义为>80%共识。
一百二十三项研究符合纳入标准,产生1285名患者。CCALD诊断的总体平均年龄为7.91岁。根据个体患者数据计算的CCALD诊断的中位年龄为7.0岁(IQR:6.0-9.5,n=349)。90%的患者被诊断为3至12岁。常规MRI是最常见的报道,最常见的是T2加权和对比增强的T1加权MRI。专家小组对以下监测参数达成95.7%的共识:(a)获得12至18个月大的MRI。(b)在基线后1年获得第二次MRI。(c)3至12岁,每6个月进行一次对比增强MRI。(d)12年后,获得年度MRI。
在生命早期发现的肾上腺脑白质营养不良的男孩应在转化为CCALD的最高风险期间进行系列脑MRI监测。
Among boys with X-Linked
adrenoleukodystrophy, a subset will develop childhood cerebral
adrenoleukodystrophy (CCALD). CCALD is typically lethal without hematopoietic stem cell transplant before or soon after symptom onset. We sought to establish evidence-based
guidelines detailing the neuroimaging surveillance of boys with neurologically asymptomatic
adrenoleukodystrophy.
To establish the most frequent age and diagnostic neuroimaging modality for CCALD, we completed a meta-analysis of relevant studies published between January 1, 1970 and September 10, 2019. We used the
consensus development conference method to incorporate the resulting data into
guidelines to inform the timing and techniques for neuroimaging surveillance. Final
guideline agreement was defined as >80%
consensus.
One hundred twenty-three studies met inclusion criteria yielding 1285 patients. The overall mean age of CCALD diagnosis is 7.91 years old. The median age of CCALD diagnosis calculated from individual patient data is 7.0 years old (IQR: 6.0-9.5, n = 349). Ninety percent of patients were diagnosed between 3 and 12. Conventional MRI was most frequently reported, comprised most often of T2-weighted and contrast-enhanced T1-weighted MRI. The expert panel achieved 95.7% consensus on the following surveillance parameters: (a) Obtain an MRI between 12 and 18 months old. (b) Obtain a second MRI 1 year after baseline. (c) Between 3 and 12 years old, obtain a contrast-enhanced MRI every 6 months. (d) After 12 years, obtain an annual MRI.
Boys with adrenoleukodystrophy identified early in life should be monitored with serial brain MRIs during the period of highest risk for conversion to CCALD.