Singh Rani K, Leshner Robert T, Kadom Nadja, Vanderver Adeline L
Department of Neurology, Children's National Medical Center, Washington, DC 20010, USA.
Pediatr Neurol. 2009 May;40(5):380-2. doi: 10.1016/j.pediatrneurol.2008.11.015.
Metachromatic leukodystrophy is a lysosomal storage disorder with an estimated incidence of 1:40,000. Magnetic resonance imaging at time of diagnosis often shows symmetric white matter involvement, sparing the arcuate fibers. A 25-month-old female child presented with a cranial neuropathy, a spastic gait, decreased leukocyte arylsulfatase-A activity, and elevated urinary sulfatides. Magnetic resonance imaging revealed multiple cranial nerve enhancement, without intraparenchymal white matter involvement.
异染性脑白质营养不良是一种溶酶体贮积症,估计发病率为1:40000。诊断时的磁共振成像通常显示对称性白质受累,弓状纤维未受累。一名25个月大的女童出现颅神经病变、痉挛性步态、白细胞芳基硫酸酯酶A活性降低和尿硫脂升高。磁共振成像显示多条颅神经强化,脑实质内白质未受累。