Snyder R D, King J N, Keck G M, Orrison W W
Department of Neurology, University of New Mexico School of Medicine, Albuquerque 87131-5281.
AJNR Am J Neuroradiol. 1991 Nov-Dec;12(6):1095-8.
Twenty-three subjects from two family groups with the adrenoleukodystrophy (ALD)-adrenomyeloneuropathy (AMN) complex were examined with MR imaging at 1.5 T to determine the presence and extent of brain and spinal cord abnormalities. Nineteen individuals were identified as having ALD or AMN, or as having carrier status on the basis of pedigree analysis and/or evaluation of serum very-long-chain fatty acids. In addition to the expected intracranial white matter changes for this disorder, decreased spinal cord diameter was found in seven (30%) of the 23 subjects. In three of these cases, atrophy was limited to the thoracic spinal cord, while atrophy of both the cervical and thoracic cord was identified in four patients. Two patients who did not have MR imaging of the spine were found to have spinal cord atrophy at autopsy. The finding of decreased spinal cord diameter on MR examinations in individuals who are heterozygous for ALD-AMN, in patients with ALD or AMN, and in asymptomatic ALD-AMN patients may represent a new anatomic marker for the variable clinical presentations of this condition. In addition to cranial MR examination, MR imaging of the spine may be indicated in patients with suspected ALD or AMN, or in women with carrier status.
对来自两个患有肾上腺脑白质营养不良（ALD）-肾上腺脊髓神经病（AMN）综合征家族组的23名受试者进行了1.5T磁共振成像检查，以确定脑和脊髓异常的存在及范围。根据系谱分析和/或血清极长链脂肪酸评估，19名个体被确定患有ALD或AMN，或为携带者。除了该疾病预期的颅内白质改变外，23名受试者中有7名（30%）脊髓直径减小。其中3例，萎缩仅限于胸段脊髓，而4例患者颈段和胸段脊髓均有萎缩。2例未进行脊柱磁共振成像检查的患者在尸检时发现有脊髓萎缩。在ALD-AMN杂合子个体、ALD或AMN患者以及无症状ALD-AMN患者的磁共振检查中发现脊髓直径减小，这可能代表了该疾病不同临床表现的一种新的解剖学标志物。除了头颅磁共振检查外，对于疑似ALD或AMN的患者或携带者状态的女性，可能需要进行脊柱磁共振成像检查。
