Auditory evoked brainstem response and high‐performance liquid chromatography sulfatide assay as early indices of metachromatic leukodystrophy
1981
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.
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