Queston #6750Note

This patient’s symptoms of ataxia, optic atrophy, spastic tetraparesis, and cognitive decline are suggestive of progressive neurologic deterioration, likely of metabolic etiology. MRI with demyelination sparing U fibers is especially concerning for a leukodystrophy. Of the available testing choices, Arylsulfitidase-A testing would fit the diagnosis of metachromatic leukodystrophy. This disorder can present with infantile-onset, juvenile-onset (in this case), or adult-onset