【摘要】 目的探讨肾上腺脑白质营养不良(ALD)的临床特征。方法对4例男性ALD患者的临床资料进行回顾性分析。结果发病年龄7~11岁,均有智能下降、肢体无力,3例伴言语不清、共济失调,2例伴视听力下降,1例伴视神经萎缩、癫发作,血睾酮降低及血17-羟类固醇降低各1例,B超示双侧睾丸弥漫性病变、脑活检示类脂质沉积病各1例,4例磁共振(MRI)均见双侧枕顶叶对称性蝶翼状长T1、长T2信号灶,可累及颞叶、内囊和脑干白质。结论ALD以儿童脑型常见,主要表现为智能下降、肢体无力、言语不清、共济失调、视听力下降及癫发作等症状,可伴有视神经萎缩、肾上腺皮质及睾丸损害,依据临床症状和典型的MRI表现可以进行临床诊断。更多还原

【Abstract】 Objective To explore the clinical characteristics of adrenoleukodystrophy(ALD).Methods Clinical data of 4 patients with ALD were analyzed retrospectively.Results All the patients were boys.The age of onset were 7 to 11 years old.Three patients revealed mental impairment and limbs weakness.Other symptoms included alalia,ataxia in three cases and visual and auditive disturbances in 2 case,One case had visual nerve atrophy and seizures.Testost in one case and 17-hydroxide steroid in another case were degressive.Cerebral biopsy in one case suggest lipide sediment.Testicle impairment in one case was found by ultrasonography.The cerebral magnetic resonance imaging(MRI) of all the 4 patients showed the characteristic pattern of symmetrical long T1 and long T2 signal in the parieto-occipital region.Conclusion Child cerebral form is the most common form of ALD.Its main clinical characteristics are mental impairment,limbs weakness,alalia,ataxia,seizures,viral and auditive disturbances.Some patients accompanied by visaul nerve atrophy,adrenal cortex and testicle impairment.ALD can be diagnosed by clinical characteristics combined with cerebral MRI.更多还原