脊髓与脑干受累伴脑白质乳酸升高的脑白质病1例

Leukoencephalopathy involving the spinal cord and brain stem with elevated brain white matter lactic acid: report of one case

伴脊髓与脑干受累以及脑白质乳酸升高的脑白质病(Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation,LBSL)是一种罕见病,它是常染色体隐性遗传的脑白质病,最先于2003年报道[2],头颅MRI表现以脑白质区多发的异常信号,并累及胼胝体、脑干及脊髓为主要特征,多数患者伴有头颅磁共振波谱(MRS)乳酸(Lac)峰升高。目前我国报道仅4例,3例为儿童期发病。