Auditory evoked brainstem response and high‐performance liquid chromatography sulfatide assay as early indices of metachromatic leukodystrophy
- 1 August 1981
- journal article
- case report
- Published by Wolters Kluwer Health in Neurology
- Vol. 31 (8) , 980
- https://doi.org/10.1212/wnl.31.8.980
Abstract
We studied three patients with metachromatic leukodystrophy, two with late infantile onset and one with juvenile onset. Auditory brainstem responses were abnormal in all patients, including a 14-month-old child who was asymptomatic, with normal neurologic examination and peripheral nerve conduction studies. Auditory brainstem responses therefore indicated early pathology. A new high-performance liquid chromatography assay was used to quantitate the urinary sulfatide excretion at the picomole level.Keywords
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