Hsich G E, Robertson R L, Irons M, Soul J S, du Plessis A J
Department of Neurology, Harvard Medical School and Children's Hospital, Boston, Massachusetts 02115, USA.
Pediatr Neurol. 2000 Nov;23(5):425-8. doi: 10.1016/s0887-8994(00)00207-1.
Menkes' disease is an X-linked disorder caused by impaired intracellular transport of copper. Currently, no therapy effectively arrests the relentless neurodegeneration of Menkes' disease. Previous neuroimaging reports of patients with Menkes' disease describe a range of abnormalities, including intracranial vessel tortuosity and cerebral white matter changes. We report two infants with Menkes' disease who developed ischemic cerebrovascular disease early in infancy. Magnetic resonance studies, including diffusion-weighted imaging and proton magnetic resonance spectroscopy, demonstrated bilateral infarctions of deep gray matter nuclei, a finding not previously described in Menkes' disease. Potential mechanisms for these cerebrovascular lesions in Menkes' disease include the susceptibility to free radical attack and inadequate energy supply from oxidative phosphorylation. These infarctions may play an unrecognized but important role in the neurodegeneration of children with Menkes' disease. The development of effective therapeutic agents against this disease will require a more detailed understanding of such underlying mechanisms.
门克斯病是一种由细胞内铜转运受损引起的X连锁疾病。目前，尚无治疗方法能有效阻止门克斯病无情的神经退行性变。先前关于门克斯病患者的神经影像学报告描述了一系列异常情况，包括颅内血管迂曲和脑白质改变。我们报告了两名患有门克斯病的婴儿，他们在婴儿早期就发生了缺血性脑血管疾病。包括扩散加权成像和质子磁共振波谱在内的磁共振研究显示双侧深部灰质核梗死，这一发现此前在门克斯病中未曾描述过。门克斯病中这些脑血管病变的潜在机制包括易受自由基攻击以及氧化磷酸化能量供应不足。这些梗死可能在门克斯病患儿的神经退行性变中发挥未被认识但重要的作用。开发针对这种疾病的有效治疗药物需要更详细地了解此类潜在机制。
