Year: 2024
Type: article
Study design: Case Report
Abstract: Careful evaluation of symptom progression and radiographic findings are essential tools when approaching cases of suspected chronic myelopathies. In this case, a 26-year-old woman presented with progressive ambulatory and bladder dysfunction for 4 years. Her examination was marked by bilateral lower-extremity upper motor neuron signs and distal large-fiber sensory loss. Neurologic workup for acquired causes of this presentation was unrevealing. MRI of the brain revealed a characteristic radiologic finding. Guided genetic testing ultimately yielded the final diagnosis. In this clinical vignette, we review the approach to chronic myelopathy including consideration of genetic etiologies and pursuit of targeted gene testing. We further discuss the typical clinical and radiographic findings of a rare diagnosis.
Source: Neurology
Institution: University of Pennsylvania
Language: English
Subfield: Cellular and Molecular Neuroscience
Field: Neuroscience
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W4402258501