Adult onset leukodystrophy manifested as spastic paraplegia

Abstract

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. Key words: Leukodystrophy, globoid cell; Adrenoleukodystrophy; Paraplegia