neurofibromatosis 1 (NF-1);
Chlari type I malformation;
tonsilar herniation;
syringomyelia;
magnetic resonance imaging (MRI);
D O I:
10.1111/j.1346-8138.2005.tb00711.x
中图分类号:
R75 [皮肤病学与性病学];
学科分类号:
100206 ;
摘要:
Neurofibromatosis 1 (NF-1) is a relatively common, autosomally dominant disorder, comprised of characteristic skin lesions. NF-1 is also associated with a variety of cerebral dysplasias. We describe a patient with both NF-1 and Chiari type I malformation. The frequency of this correlation depends on the magnetic resonance imaging (MRI) findings in patients with NF-1, because some cases of Chiari malformations are asymptomatic. Awareness and further observation of this unusual association are required, and Chiari type I malformation should be added to the differential diagnosis of the central nervous system dysplasias in patients affected by NF-1.