Syringomyelia: A New Phenotype of SPG11-Related Hereditary Spastic Paraplegia?

Abstract

Hereditary spastic paraplegia (HSP) refers to a group of neurodegenerative disorders affecting motor neurons in the central nervous system. HSP type 11 is the most frequent subtype of autosomal recessive HSPs. Caused by pathogenic variants in SPG11, HSP type 11 has a heterogeneous clinical presentation, including various degrees of cognitive dysfunction, spasticity and weakness predominantly in the lower extremities among other features. An 8-year-old boy visited our rehabilitation clinic with a chief complaint of intellectual impairment. Motor weakness was not apparent, but he exhibited a mild limping gait with physical signs of upper motor neuron involvement. Next generation sequencing revealed biallelic pathogenic variants, c.2163dupT and c.5866+1G>A in SPG11, inherited biparentally which was confirmed by Sanger sequencing. Brain imaging study showed thinning of corpus callosum, consistent with previous reports, however whole spine imaging study revealed extensive syringomyelia in his spinal cord, a rare finding in HSP type 11. Further studies are needed to determine whether this finding is a true phenotype associated with HSP type 11.

Keywords: Genetic Disorders; Hereditary Spastic Paraplegia; Syringomyelia.