摘要
目的 观察以痉挛性截瘫为主要表现的成人型脑白质营养不良患者的临床和影像特征,为临床早期诊断提供依据.方法 回顾性分析和总结2013-2014年北京协和医院神经科病房和脑白质病门诊就诊的3例以痉挛性截瘫为主要表现的成人型脑白质营养不良的临床表现、影像特征、治疗和随访结果.结果 3例中2例为Krabbe病,1例为肾上腺脊髓神经病（AMN）患者,临床均长期突出表现为痉挛性截瘫,没有明确的认知功能障碍,隐袭起病,缓慢进展,影像学表现为累及双侧皮质脊髓束走行区的双侧对称性长T1、长T2信号,电生理检出临床下的周围神经受累.AMN患者无肾上腺皮质功能不全.Krabbe病患者累及上部锥体束（运动皮质至内囊）,AMN则累及下部锥体束（内囊至脑干脊髓）.结论 成人型脑白质营养不良可单纯表现为痉挛性截瘫,临床上病因未明的痉挛性截瘫需筛查相应酶学或基因以鉴别脑白质营养不良.
Objective To characterize the clinical and imaging patterns of adult onset leukodystrophy manifested as spastic paraplegia for early diagnosis and treatment.Methods Clinical and imaging data of 3 patients in Peking Union Medical College Hospital from 2013 to 2014 with adult onset leukodystrophy were reviewed retrospectively.Results Two Krabbe disease and one adrenomyeloneuropathy （AMN） patients all manifested as spastic paraplegia without cognitive impairment.The MRI patterns were bilateral symmetrical long T1 and long T2 signals only affecting cortical spinal tract areas.Subclinical peripheral neuropathy was detected by electrophysiology methods.No adrenal cortical insufficiency was found in AMN patient.On imaging,Krabbe disease mainly affected upper part of cortical spinal tract from motor cortex to internal capsule,and AMN affected lower part from internal capsule to pon and spinal cord.Conclusions Adult onset leukodystrophy can solely manifest as spastic paraplegia.We should take leukodystrophy into differential diagnosis of spastic paraplegia with unknown cause and test enzymes or genes for early diagnosis.
出处
《中华神经科杂志》
CAS
CSCD
北大核心
2015年第9期748-752,共5页
Chinese Journal of Neurology
