Department of Clinical Neuropathology, King's College Hospital, NHS Foundation Trust, London, UK.
Neuropathology. 2012 Jun;32(3):285-92. doi: 10.1111/j.1440-1789.2011.01257.x. Epub 2011 Oct 18.
Adult onset leukodystrophy with neuroaxonal spheroids is an uncommon cause of dementia. Both hereditary (autosomal dominant) and sporadic cases have been described. A 41-year-old African woman presented with inappropriate behavior and personality change consistent with frontal lobe dysfunction. MRI demonstrated diffuse frontoparietal white matter signal abnormality and volume loss, as well as focal enhancing white matter lesions, while CT scan showed white matter calcifications. She had been gradually deteriorating over the last 5 years, diagnosed as having progressive demyelinating illness. She died of recurrent chest infections. There was no familial history. The brain showed prominent symmetrical white matter changes with greyish discolorization mainly affecting the frontal and parietal lobes, with less involvement of the temporal lobe and only mildly affecting the occipital white matter. Histology revealed deep white matter atrophy with many neuroaxonal spheroids labelled by neurofilament and β-amyloid precursor protein. In addition, scattered inactive demyelinating plaque-like lesions were found in the periventricular areas, brainstem and the cervical spinal cord. This case had typical features of an adult onset leukodystrophy with neuroaxonal spheroids. However, we also demonstrated demyelinating plaque-like lesions, which has not been previously described. The possibility of a demyelinating origin contributing to the changes may be considered in the pathogenesis of this condition.
成人发病伴轴索性脑白质营养不良是一种不常见的痴呆原因。既有遗传性（常染色体显性遗传）病例，也有散发性病例的报道。一位 41 岁的非洲女性，以与额叶功能障碍一致的不当行为和人格改变为表现。MRI 显示弥漫性额顶叶白质信号异常和体积丢失，以及局灶性强化白质病变，而 CT 扫描显示白质钙化。她在过去 5 年中逐渐恶化，被诊断为进行性脱髓鞘疾病。她死于反复的胸部感染。家族史无异常。大脑表现为明显的对称白质改变，伴有灰化变色，主要影响额叶和顶叶，颞叶受累较少，枕叶受累较轻。组织学显示深部白质萎缩，有许多神经轴索球体，用神经丝和β-淀粉样前体蛋白标记。此外，在脑室周围区域、脑干和颈段脊髓中还发现了散在的无活性脱髓鞘斑块样病变。本例具有成人发病伴轴索性脑白质营养不良的典型特征。然而，我们还发现了脱髓鞘斑块样病变，这以前没有描述过。在发病机制中，可能需要考虑脱髓鞘病变对这些改变的影响。
