The patient was diagnosed to have hereditary spastic paraplegia (HSP) on the basis of suggestive clinical and radiological features. Genetic testing was suggested to confirm the diagnosis but the patient declined due to financial considerations.
HSPs are a group of genetic diseases characterized by degeneration of spinal tracts (corticospinal tracts and dorsal columns) leading to lower limb weakness and gait abnormalities.
Recognized neuroimaging signs include:
- hyperintense T2/FLAIR signal at the tips of the frontal horns of lateral ventricles (ears of the lynx sign)
- corpus callosum atrophy
- hypointense T2 signal of bilateral globi pallidi (due to deposition of iron)
- white matter T2 hyperintensities
- hydrocephalus
- spinal cord atrophy
- thoracic cord hydromyelia