Weller M, Liedtke W, Petersen D, Opitz H, Poremba M
Department of Neurology, University of Tübingen, Germany.
Neurology. 1992 Feb;42(2):367-70. doi: 10.1212/wnl.42.2.367.
We report the clinical history, neuroradiology, and autopsy findings in a patient with very late onset, at age 57, of adrenoleukodystrophy (ALD) presenting with dementia, hemianopia, and gait apraxia. Open brain biopsy, elevated plasma very-long-chain fatty acids, and autopsy confirmed the diagnosis of ALD. Demyelinative lesions were most extensive at the site of a recent cerebral contusion. CNS trauma may have precipitated or accelerated demyelination in this patient carrying the ALD gene.
我们报告了一名57岁极晚发肾上腺脑白质营养不良（ALD）患者的临床病史、神经放射学及尸检结果，该患者表现为痴呆、偏盲和步态失用。开放性脑活检、血浆极长链脂肪酸升高及尸检均确诊为ALD。脱髓鞘病变在近期脑挫伤部位最为广泛。中枢神经系统创伤可能促使或加速了这名携带ALD基因患者的脱髓鞘病变。
