Rosenkilde M, Albrecht-Beste E, Wagner A
Department of Neuroradiology, Rigshospitalet, Copenhagen, Denmark.
Acta Radiol. 1995 Nov;36(6):610-2.
Adrenoleukodystrophy is a hereditary, usually X-linked recessive disorder, characterized by progressive demyelination of cerebral white matter and adrenal insufficiency.
We report the case of a 14-year-old boy, presenting the typical changes in CT and MR with almost symmetrical changes in the white matter only, with no mass effect and a rim of enhancement. Adrenoleukodystrophy may resemble tumour but shows no mass effect.
We discuss the differential diagnoses and underline the importance of the characteristic appearance of this disease. Adrenoleukodystrophy is diagnosed by serum analysis.
肾上腺脑白质营养不良是一种遗传性疾病，通常为X连锁隐性遗传，其特征为脑白质进行性脱髓鞘和肾上腺功能不全。
我们报告一例14岁男孩的病例，其CT和MR表现典型，仅白质有几乎对称的改变，无占位效应及强化环。肾上腺脑白质营养不良可能类似肿瘤，但无占位效应。
我们讨论了鉴别诊断，并强调了该疾病特征性表现的重要性。肾上腺脑白质营养不良通过血清分析进行诊断。
