Hereditary Spastic Paraplegia: A Case Report of a Rare Condition and a Literature Review

Abstract

We would like to report a case diagnosed with HSP at Hanoi Medical University Hospital. A 28-year-old female patient was admitted to the hospital because of progressive weakness in the extremities, predominance of the lower extremities; Clinical examination revealed that the patient had symptoms of spastic quadriplegia symmetrically, accompanied by circular muscle dysfunction and cerebellar syndrome. On conventional MRI, there is a characteristic image of corpus callosum atrophy on the sagital sequences and the “ears of the lynx sign” on the axial FLAIR sequences. As a result, the patient was oriented to the genome sequencing test, resulting in a mutation in the SPG11 gene which is the most common mutation of the Hereditary spastic paraplegia.