Claeys Kristl G, Claes Lieve R F, Van Goethem Johan W M, Sercu Sandy, Merregaert Joseph, Lambert Julien, Van Marck Eric A, Parizel Paul M, De Jonghe Peter
Neurogenetics Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp, Universiteitsplein 1, B-2610 Antwerpen, Belgium.
Seizure. 2007 Jul;16(5):465-8. doi: 10.1016/j.seizure.2007.02.014. Epub 2007 Apr 2.
We report the clinical, neuroradiological, and molecular genetic findings in a patient with lipoid proteinosis or Urbach-Wiethe disease. Interestingly, in this patient epilepsy and migraine were the symptoms leading to the diagnosis of the disease, contrary to most patients in whom skin abnormalities are the first recognized symptoms.
我们报告了一例类脂质蛋白沉积症（或称乌尔巴赫-维特病）患者的临床、神经放射学及分子遗传学检查结果。有趣的是，该患者因癫痫和偏头痛症状而得以确诊，这与大多数患者不同，后者最初被识别的症状是皮肤异常。
