CAJ | 학술논문

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.
목적 관찰이경련성절탄위주요표현적성인형뇌백질영양불량환자적림상화영상특정,위림상조기진단제공의거.방법 회고성분석화총결2013-2014년북경협화의원신경과병방화뇌백질병문진취진적3례이경련성절탄위주요표현적성인형뇌백질영양불량적림상표현、영상특정、치료화수방결과.결과 3례중2례위Krabbe병,1례위신상선척수신경병(AMN)환자,림상균장기돌출표현위경련성절탄,몰유명학적인지공능장애,은습기병,완만진전,영상학표현위루급쌍측피질척수속주행구적쌍측대칭성장T1、장T2신호,전생리검출림상하적주위신경수루.AMN환자무신상선피질공능불전.Krabbe병환자루급상부추체속(운동피질지내낭),AMN칙루급하부추체속(내낭지뇌간척수).결론 성인형뇌백질영양불량가단순표현위경련성절탄,림상상병인미명적경련성절탄수사사상응매학혹기인이감별뇌백질영양불량.
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.