PDF(Pubmed)
Abstract：
In this article, we report the third case of chloride voltage-gated channel 2 (CLCN2)-related leukoencephalopathy (CC2L) in Japan. The patient presented with headache, vertigo, and mild visual impairment. The CLCN2 variant of the patient, NM_004366.6:c.61dup, p.(Leu21Profs*27), was also found in two other Japanese patients as this variant is relatively common in the Japanese population. Magnetic resonance imaging (MRI) revealed T2 prolongation with reduced diffusion in the bilateral posterior limbs of the internal capsule, cerebral peduncles, and superior and middle cerebellar peduncles. Magnetic resonance spectroscopy (MRS) of normal-appearing white matter revealed decreased choline content. This represents the first evidence of decreased choline levels in CC2L, highlighting the superior sensitivity of MRS over MRI.
摘要：
在这篇文章中,我们报道了日本第3例氯离子电压门控通道2(CLCN2)相关性白质脑病(CC2L).病人出现头痛，眩晕,和轻度视力障碍。患者的CLCN2变体，NM_004366.6：c.61dup，p.（Leu21Profs*27），在另外两名日本患者中也发现了这种变异，因为这种变异在日本人群中相对常见。磁共振成像（MRI）显示T2延长，在内囊的双侧后肢扩散减少，脑花梗,和小脑中段。正常出现的白质的磁共振波谱（MRS）显示胆碱含量降低。这代表了CC2L中胆碱水平降低的第一个证据，突出MRS优于MRI的敏感性。
