Department of Radiology, Uppsala University, Uppsala, Sweden.
Department of Radiology, University Hospital, 751 85, Uppsala, Sweden.
Neuroradiology. 2013 Aug;55(8):933-939. doi: 10.1007/s00234-013-1174-5. Epub 2013 May 1.
Adult-onset ADLD with autonomic symptoms is a rare disease with a clinical course somewhat similar to chronic progressive MS but with different imaging findings consisting of extensive white matter changes in the cerebrum and cerebellar peduncles. Patients usually present in the fourth to sixth decade with autonomic symptoms, manifesting later symptoms from the pyramidal tracts and ataxia. Here, we present magnetic resonance spectroscopy (MRS) findings in this disease.
Fourteen subjects, from two non-related families, with genetic linkage to the disease were studied with magnetic resonance imaging and single-voxel MRS. Clinically, they ranged from asymptomatic to wheelchair-using. Their results were compared to those of age- and sex-matched healthy controls.
One MRS was excluded due to suboptimal quality. The remaining 13 subjects manifested characteristic evidence of pathology on MRI, 11 of them exhibited extensive changes. The metabolite concentrations of total Cr, total Cho, and total NAA measured in millimolars, using internal water as a reference, were significantly lower in these 11 subjects compared to controls, and we found linear correlations between all these metabolite levels. When total Cr was used as a reference, we found no difference between subjects and controls. No lactate was detected.
The decreased metabolite concentrations measured using internal water as a reference are most likely due to increased water content in the tissues, diluting all metabolites to a similar degree. This is also in agreement with the high signal intensity exhibited in the white matter on T2-weighted MR images and with the reported histopathological findings of vacuolated myelin.
伴有自主神经症状的成人发病的 ADLD 是一种罕见疾病，其临床过程与慢性进行性多发性硬化症有些相似，但影像学表现不同，主要表现为大脑和小脑脑桥广泛的白质改变。患者通常在第四至第六十年出现自主神经症状，随后出现锥体束和共济失调等症状。在此，我们介绍该疾病的磁共振波谱（MRS）结果。
对两个无血缘关系的家族中与疾病相关的 14 名患者进行了磁共振成像和单体素 MRS 检查。临床方面，他们的症状从无症状到需要使用轮椅不等。将他们的结果与年龄和性别匹配的健康对照组进行比较。
由于质量不佳，排除了 1 个 MRS。其余 13 名患者的 MRI 表现出典型的病理特征，其中 11 名患者表现出广泛的变化。用内部水作为参考，以毫摩尔计测量的总 Cr、总 Cho 和总 NAA 的代谢物浓度在 11 名患者中明显低于对照组，并且我们发现所有这些代谢物水平之间存在线性相关性。当以总 Cr 为参考时，我们发现患者与对照组之间没有差异。未检测到乳酸。
用内部水作为参考测量的代谢物浓度降低可能是由于组织中含水量增加，所有代谢物都被稀释到相似程度。这也与 T2 加权 MR 图像上显示的高信号强度以及报告的空泡状髓鞘的组织病理学发现一致。
