Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)
Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)
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DOI：
10.1007/s10545-017-0028-4
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发表时间：
2017-09-01
影响因子：
4.2
通讯作者：
Serrano, Mercedes
中科院分区：
文献类型：
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作者：
de Diego, Victor;Martinez-Monseny, Antonio F.;Serrano, Mercedes
目的 通过分析纵向 MRI 研究并进行小脑体积分析和 2D 小脑测量，我们旨在通过分析纵向 MRI 研究并进行小脑体积分析和 2D 小脑测量，描绘磷酸甘露糖变位酶缺乏症 (PMM2-CDG) 儿童小脑萎缩（主要神经影像学表现）的进展。方法采用统计分析比较 PMM2-CDG 儿童和性别和年龄匹配儿童的 MRI 测量结果[正中矢状蚓部相对直径 (MVRD) 和体积]对照，并确定不同年龄小脑萎缩的进展速度。结果 33 名 PMM2-CDG 患者的 50 项 MRI 研究用于 2D 评估，19 项 MRI 研究可用于体积分析。线性回归模型的结果显示，与对照组相比，患者的 MVRD 和小脑体积显着较低（分别为 p < 0.001 和 p < 0.001）。患者年龄和 MVRD 之间存在显着负相关 (p = 0.014)。通过每年 MVRD 和小脑体积损失来衡量的小脑萎缩率在早期较高（分别为 r = -0.578，p = 0.012 和 r = -0.323，p = 0.48），特别是在 11 岁以下的患者中（p = 0.004）。 PMM2-CDG 患者的 MVRD 和小脑体积之间存在显着正相关（r = 0.669，p = 0.001）。 结论 我们的研究量化了 PMM2-CDG 患者小脑萎缩的进展，特别是在生命的第一个十年，并提出了一种简单而可靠的测量方法 MVRD 来监测小脑萎缩。鉴于 PMM2-CDG 儿童的潜在治疗，MVRD 和小脑体积的定量测量对于与表型和结果相关、自然随访和监测至关重要。
Objective We aim to delineate the progression of cerebellar atrophy (the primary neuroimaging finding) in children with phosphomannomutase-deficiency (PMM2-CDG) by analyzing longitudinal MRI studies and performing cerebellar volumetric analysis and a 2D cerebellar measurement.Methods Statistical analysis was used to compare MRI measurements [midsagittal vermis relative diameter (MVRD) and volume] of children with PMM2-CDG and sex-and age matched controls, and to determine the rate of progression of cerebellar atrophy at different ages. Results Fifty MRI studies of 33 PMM2-CDG patients were used for 2D evaluation, and 19 MRI studies were available for volumetric analysis.Results from a linear regression model showed that patients have a significantly lower MVRD and cerebellar volume compared to controls (p < 0.001 and p < 0.001 respectively). There was a significant negative correlation between age and MVRD for patients (p = 0.014). The rate of cerebellar atrophy measured by the loss of MVRD and cerebellar volume per year was higher at early ages (r = -0.578, p = 0.012 and r = -0.323, p = 0.48 respectively), particularly in patients under 11 years (p = 0.004). There was a significant positive correlation between MVRD and cerebellar volume in PMM2-CDG patients (r = 0.669, p = 0.001).Conclusions Our study quantifies a progression of cerebellar atrophy in PMM2-CDG patients, particularly during the first decade of life, and suggests a simple and reliable measure, the MVRD, to monitor cerebellar atrophy. Quantitative measurement of MVRD and cerebellar volume are essential for correlation with phenotype and outcome, natural follow-up, and monitoring in view of potential therapies in children with PMM2-CDG.