Presentation
Gradual progressive bilateral lower extremity spasticity, weakness, and walking difficulty. The complaints start approximately 2 years ago. According to the relatives, the patient was completely normal 3 years earlier.
Patient Data
Non-contrast MRI demonstrates diffuse thinning of the corpus callosum, more pronounced in the anterior aspect, without any focal lesions and abnormal signal.
Abnormal cone-shaped T2/FLAIR hyperintensity at the tip of the frontal horn of the lateral ventricles in the region of the forceps minor (ear of the lynx sign).
Bilateral lateral ventricles are mildly dilated.
The findings mentioned above are most suggestive of hereditary spastic paraplegia.
Case Discussion
Hereditary spastic paraplegias (HSP) are a large heterogeneous group of genetic diseases. They are characterised by progressive degeneration of the corticospinal tracts and posterior columns of the spinal cord. HSPs are very slowly progressive disorders. Patients in most cases present with gait abnormalities, lower extremity predominant spasticity, and weakness. Sensory deficits and urinary complaints are also found. HSP mostly carries an autosomal recessive inheritance.
Unfortunately, the results of the genetic testing in this case are unavailable.
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