Santos L M, Vilanova L C, Micheletti C, Mendes C S, Borri M L, Martins A M
Setor de Neurologia Infantil, Escola Paulista de Medicina, Universidade Federal de São Paulo.
Arq Neuropsiquiatr. 2001 Mar;59(1):125-7. doi: 10.1590/s0004-282x2001000100027.
Menkes disease is a rare X-linked disorder related to a defect in the copper metabolism. According to the current literature, the most frequent neuroimaging findings are cortical atrophy, chronic subdural effusion or hygroma, and vascular abnormalities. White matter lesions may be present before other features of the disease and may evolve into atrophy. We hereby report a case of Menkes disease with typical history and progression, and an early phase imaging study with important white matter abnormalities, which could have lead to diagnostic difficulties.
门克斯病是一种罕见的X连锁疾病，与铜代谢缺陷有关。根据目前的文献，最常见的神经影像学表现是皮质萎缩、慢性硬膜下积液或蛛网膜下腔积液，以及血管异常。白质病变可能在疾病的其他特征出现之前就已存在，并可能发展为萎缩。我们在此报告一例具有典型病史和病程的门克斯病病例，以及一项早期影像学研究，该研究显示出重要的白质异常，这可能导致诊断困难。
