Williams G A, Pearl G S, Pollack M A, Anderson R E
Department of Pathology, Orlando Regional Healthcare System, Fla., USA.
South Med J. 1998 Aug;91(8):770-4.
Adrenoleukodystrophy is an X-linked recessive peroxisomal disorder, characterized by progressive neurologic deterioration due to cerebral white matter demyelination and adrenal insufficiency. Onset is usually in childhood between ages 5 and 10, and its course is fatal within approximately 5 years. Initial symptoms are behavioral, gait, and auditory disturbances and may be a diagnostic dilemma. Abnormally raised plasma very long chain fatty acids (VLCFA) are diagnostic; computed tomography and magnetic resonance imaging findings show symmetrical occipital white matter lesions which progress in a rostralcaudal direction.
肾上腺脑白质营养不良是一种X连锁隐性过氧化物酶体疾病，其特征是由于脑白质脱髓鞘和肾上腺功能不全导致进行性神经功能恶化。发病通常在5至10岁的儿童期，病程约5年内致命。初始症状为行为、步态和听觉障碍，可能造成诊断困难。血浆极长链脂肪酸（VLCFA）异常升高具有诊断意义；计算机断层扫描和磁共振成像结果显示对称的枕叶白质病变，并沿头尾方向进展。
