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Syringomyelia: A New Phenotype of SPG11-Related Hereditary Spastic Paraplegia?
Ga Hye Kim1, Taeyoung Song1, Jaewoong Lee2
1Department of Rehabilitation Medicine, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Incheon, Korea.
Insights
Hereditary spastic paraplegia type 11 (HSP) is a neurodegenerative disorder. This case study identifies extensive spinal cord syringomyelia, a rare finding, in a child with SPG11 variants, suggesting a potential new phenotype.
Area of Science:
- Neuroscience
- Genetics
- Neurology
Background:
- Hereditary spastic paraplegia (HSP) encompasses neurodegenerative disorders impacting motor neurons.
- HSP type 11, caused by SPG11 gene variants, is the most common autosomal recessive form, presenting with diverse neurological symptoms.
Observation:
- An 8-year-old boy presented with intellectual impairment and subtle motor signs of upper motor neuron involvement.
- Genetic analysis revealed biparental inheritance of two pathogenic variants in the SPG11 gene.
- Brain imaging showed corpus callosum thinning, typical for HSP type 11.
Findings:
- Whole spine imaging revealed extensive syringomyelia, a spinal cord abnormality rarely associated with HSP type 11.
- The identified SPG11 variants, c.2163dupT and c.5866+1G>A, were confirmed via Sanger sequencing.
Implications:
- The presence of extensive syringomyelia in this case may indicate a previously unrecognized phenotypic feature of SPG11-related HSP.
- Further research is warranted to confirm syringomyelia as a true phenotype of HSP type 11.
- This case expands the understanding of SPG11-related disorders and their clinical variability.
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.
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