肾上腺脑白质营养不良临床分析(附6例报道)

Clinical characteristics of 6 cases with adrenoleukodystrophy

目的分析肾上腺脑白质营养不良（adrenoleukodystrophy，ALD）的临床和影像学特征。方法对6例ALD患者的临床资料进行回顾性分析。结果6例患者均为男性儿童，年龄为5—12岁，初始症状表现为注意力不集中、情绪不稳定、多动、学习成绩差等，逐渐进展加重，出现肢体瘫痪、共济失调、言语障碍、视听力下降、癫痫发作、意识障碍等。MRI均可见双侧脑室后角周围、顶、枕叶白质区呈对称性蝶翼状长T1及T2信号；可累及胼胝体压部、脑桥及双侧小脑中脚。3例血浆极长链脂肪酸水平升高。脑脊液和脑电图改变无特异性。目前尚无特效治疗方法。结论ALD以儿童脑型常见，依据临床症状和典型的MRI表现可以进行临床诊断。

Objective To analyze the clinical characteristics of adrenoleukodystrophy （ALD）. Methods The clin- ical data of 6 cases with ALD were retrospectively analyzed. Results All the patients were boys. The ages of onset were 5 to 12 years old. Frequent initial symptoms including emotional lability,hyperactive behaviour,school failure. As the disease progresses,more overt neurologic deficits became apparent, which included hemiparesis or spastic tetraparesis, cerebellar ataxia, dysphonia,impaired auditory discrimination and difficulties in vision, seizures and disorders of consciousness. The cerebral magnetic resonance imaging （MRI） of all patients showed the characteristic pattern of symmetrical long T1 and long T2 signal in the parieto-oceipital region, even involved callosity and brainstem. Increased plasma very long chain fatty acids （VLCFA） were tested in 3 cases. No specific changes in cerebrospinal fluid and electroeneephalogr（EEG）. There is no specific treatment at present. Conclusion Children cerebral form is the most common form of ALD impairment. ALD can be diagnosed by clinical characteristics combined with cerebral MRI.