Mitsui H, Takahashi S, Higano S, Matsumoto K, Shimanuki Y, Ishibashi C, Sakamoto K, Tada K
Department of Radiology, Tohoku University School of Medicine.
Nihon Igaku Hoshasen Gakkai Zasshi. 1994 Sep 25;54(10):1047-8.
We presented MR (magnetic resonance) images findings of the brain in nonketotic hyperglycinemia (NKH) from 2 patients of neonatal onset. MR findings in our cases of NKH are compatible with the pathological alterations described in the literature; MR images revealed delayed myelination of the cerebral white matter and hypoplasia of the corps callosum. The latter finding particularly seemed to be relatively characteristic to NKH. MR examination is the imaging modality of choice for this disease because it can demonstrate the degree of myelination, and development of the corpus callosum particularly on sagittal section.
我们展示了2例新生儿期发病的非酮症高甘氨酸血症（NKH）患儿的脑部磁共振（MR）图像结果。我们病例中的NKH的MR表现与文献中描述的病理改变相符；MR图像显示脑白质髓鞘形成延迟和胼胝体发育不全。后一发现似乎对NKH具有相对特征性。MR检查是该疾病的首选成像方式，因为它可以显示髓鞘形成程度，尤其是在矢状面上显示胼胝体的发育情况。
