非酮症高甘氨酸血症的脑异常：磁共振成像表现
Abnormalities of the brain in nonketotic hyperglycinemia: MR manifestations.
作者信息
Press G A, Barshop B A, Haas R H, Nyhan W L, Glass R F, Hesselink J R
机构信息
Department of Radiology, University of California, School of Medicine, San Diego 92103.
出版信息
AJNR Am J Neuroradiol. 1989 Mar-Apr;10(2):315-21.
MR imaging in seven patients (4 days to 38 months old) with nonketotic hyperglycinemia showed age-related findings of progressive atrophy and delayed myelination. Parenchymal volume loss was found as early as 4 days after birth and increased in severity with increasing age to 27 months. Both supratentorial and infratentorial volume loss were present in the most severely affected patients. The corpus callosum was abnormally thin in all patients. The state of myelination of the CNS was assessed on T2-weighted images. Decreased or absent myelination within supratentorial white-matter tracts was detected in all four patients 10 months of age or older. Myelination of the brainstem and cerebellum progressed normally. No correlation was found between the degree of volume loss or abnormality of myelination demonstrated by MR and the concentration of glycine in the CSF or plasma. Abnormalities shown by MR correlate well with known pathologic findings in patients with nonketotic hyperglycinemia.
对7例年龄在4天至38个月的非酮症高甘氨酸血症患者进行的磁共振成像（MR）显示，存在与年龄相关的进行性萎缩和髓鞘形成延迟的表现。早在出生后4天就发现了实质体积减少，且随着年龄增长至27个月，严重程度增加。在受影响最严重的患者中，幕上和幕下体积均有减少。所有患者的胼胝体均异常薄。通过T2加权图像评估中枢神经系统的髓鞘形成状态。在所有4例10个月及以上的患者中，均检测到幕上白质束内髓鞘形成减少或缺失。脑干和小脑的髓鞘形成正常进展。MR显示的体积减少程度或髓鞘形成异常与脑脊液或血浆中甘氨酸浓度之间未发现相关性。MR显示的异常与非酮症高甘氨酸血症患者已知的病理结果密切相关。
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