Guthrie Scott O, Burton Edward M, Knowles Paul, Marshall Robert
Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga Unit, Erlanger Health System, 975 East Third Street, Chattanooga, TN 37304, USA.
Pediatr Radiol. 2003 Jan;33(1):47-9. doi: 10.1007/s00247-002-0776-6. Epub 2002 Aug 16.
We report the clinical and MRI findings of symmetric hyperintensity involving the deep and subcortical white matter of the frontal lobes in a neurologically normal child with macrocephaly. In this patient, a serum test for mutations in glial fibrillary acidic protein, used to diagnose Alexander's disease (AD), was positive. This case indicates an extraordinarily mild or early form of juvenile-onset AD.
我们报告了一名头大但神经功能正常的儿童,其额叶深部和皮质下白质出现对称性高信号的临床及MRI表现。对该患者进行了用于诊断亚历山大病(AD)的胶质纤维酸性蛋白突变血清检测,结果呈阳性。此病例提示为青少年型AD的一种极其轻微或早期形式。