Presentation
Bilateral lower limb spastic paraplegia and progressive cognitive impairment. Positive family history of multiple family members with the same disease.
Patient Data
mild generalized brain atrophy in the form of the prominence of sulcal spaces and ventricles
signal abnormalities involving the periventricular white matter and the forceps minor region, giving the ears of the lynx sign
an MRI of the cervical cord shows no significant abnormality or thinning of the cord
Radiological features are suggestive of hereditary spastic paraplegia (HSP).
Case Discussion
The patient was known to have hereditary spastic paraplegia, as proved by prior exome genetic testing (SPG type 15), with multiple similar family members diagnosed and positively tested for the same disease.
Radiological features include generalized brain atrophy, signal abnormalities involving the periventricular white matter, the forceps minor of the corpus callosum giving the ears of the lynx sign, and diffuse thinning of the corpus callosum. Though signal abnormalities along the posterior limbs of the internal capsule and spinal cord thinning, atrophy, or cord hyperintensity are highly suggestive features of HSP, those features were absent in our case.
Hereditary spastic paraplegia (HSP) refers to a heterogeneous group of degenerative diseases characterized by progressive limb spasticity. It's an inherited disease and could be inherited as autosomal dominant, recessive, or X-linked.
Two types have been described:
pure form, presenting only with spastic paraplegia
complicated form when present with other features such as cognitive changes, as in our case
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