Serial MRI alterations of pediatric patients with beta-propeller protein associated neurodegeneration (BPAN)
Serial MRI alterations of pediatric patients with beta-propeller protein associated neurodegeneration (BPAN)
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DOI：
10.1016/j.neurad.2020.04.002
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发表时间：
2021-03-01
影响因子：
3.5
通讯作者：
Sasaki, Masayuki
中科院分区：
文献类型：
--
作者：
Kimura, Yukio;Sato, Noriko;Sasaki, Masayuki
A B S T R A C T背景和目的。- β-螺旋桨蛋白相关神经变性（BPAN）是伴有脑铁蓄积的神经变性的一种亚型。BPAN在儿童早期临床表现和影像学检查无特异性，诊断困难。我们经历了四个儿科患者的系列脑MRI和评估的变化，通过他们的过程中的结果。- 我们回顾性地分析了4例经遗传学证实的儿童BPAN的临床表现和21例MRI表现。我们还使用苍白球（GP）、黑质（SN）和小脑深核（DCN）的定量磁敏感性图（QSM）值与10名年龄匹配的疾病对照进行了定量MR评估。结果- 在进行基因诊断之前，只有一名患者根据影像学检查结果疑似患有BPAN。其他3例患者在进行全外显子组测序（WES）之前不能被怀疑。在所有4例患者中，在初次脑MRI检查时未发现GP和SN异常信号，但在4-7岁的T2加权图像和2-7岁的磁共振加权图像上观察到低信号。在3例患者中，在整个观察期间持续观察到双侧DCN的T2高信号。3例患者在发热和癫痫发作期间表现出GP、SN和/或DCN的一过性T2高信号和肿胀。其他发现包括大脑和小脑萎缩，胼胝体变薄，髓鞘形成延迟。与正常对照组相比，糖尿病组GP和SN的QSM值显著增高（P = 0.005），而DCN的QSM值无显著性差异（P = 0.16）。- 脑MRI是早期诊断BPAN的有效方法。(c)2020 Elsevier Masson SAS。All rights reserved.
A B S T R A C T Background and Purpose. - Beta-propeller protein-associated neurodegeneration (BPAN) is one subtype of neurodegeneration with brain iron accumulation. It is difficult to diagnose BPAN due to the non specificity of their clinical findings and neuroimaging in early childhood. We experienced four pediatric patients with serial brain MRI and evaluated the alteration of the findings through their course.Methods. - We retrospectively reviewed the clinical findings and 21 MRI findings of the four patients with genetically confirmed pediatric BPAN. We also performed a quantitative MR assessment using the quantitative susceptibility mapping (QSM) values of the globus pallidus (GP), substantia nigra (SN), and deep cerebellar nuclei (DCN) compared to 10 age-matched disease controls. Results. - Only one patient was suspected of BPAN based on imaging findings before the genetic diagnosis was made. The other three patients could not be suspected until their Whole-exome sequencings (WES) done. In all four cases, no abnormal signals were noted in the GP and SN at the initial brain MRI, but hypointensities were observed after the ages of 4-7 years on T2-weighted images and after the ages of 2-7 years on susceptibility-weighted images. In three patients, T2 hyperintensity in the bilateral DCN was persistently observed throughout the observational period. Three patients showed transient T2 hyper intensity and swelling in the GP, SN and/or DCN during the episodes of pyrexia and seizures. The other findings included cerebral and cerebellar atrophy, thinning of the corpus callosum, and delayed myelination. The QSM values of the GP and SN were significantly higher in the patients compared to the controls (P = 0.005, respectively), but that of the DCN did not differ significantly (P = 0.16).Conclusion. - Brain MRI is a useful method to establish the early diagnosis of BPAN.(c) 2020 Elsevier Masson SAS. All rights reserved.