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Case Reports
. 2022 Apr;43(4):2849-2852.
doi: 10.1007/s10072-021-05841-8. Epub 2022 Jan 23.

A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis

Diego Lopergolo  1   2 , Gianna Berti  1   2 , Francesca Mari  3   4 , Enrico Bertini  5 , Alessandra Rufa  1   2 , Carla Battisti  1   2 , Francesco Sicurelli  1   2 , Alessandra Renieri  3   4 , Antonio Federico  1   2 , Konrad Sandhoff  6 , Alessandro Malandrini  7   8
Affiliations
Case Reports

A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis

Diego Lopergolo et al. Neurol Sci. 2022 Apr.

Abstract

Introduction: Spastic paraplegia type 11 (SPG11) is the most frequent autosomal recessive HSP. Studies on SPG11 patients' fibroblasts, post-mortem brains, and mouse models revealed endolysosomal system dysfunction and lipid accumulation, especially gangliosides. We report a patient with early clinical findings mimicking a GM2-gangliosidosis.

Methods: A clinical, biochemical, and metabolic characterization was performed. Electron microscopy analysis was completed on rectal mucosa and skin biopsy specimens. A NGS panel of genes associated to neuronal ceroid lipofuscinosis and HSP was analyzed.

Results: The patient presented with worsening walking difficulty and psychomotor slowdown since childhood; to exclude a neurometabolic storage disease, skin and rectal biopsies were performed: enteric neurons showed lipofuscin-like intracellular inclusions, thus suggesting a possible GM2-gangliosidosis. However, further analysis did not allow to confirm such hypothesis. In adulthood we detected flaccid paraplegia, nystagmus, axonal motor neuropathy, carpus callosum atrophy, and colon atony. Surprisingly, the NGS panel detected two already reported SPG11 mutations in compound heterozygosity.

Conclusions: We describe for the first time pathological hallmarks of SPG11 in enteric neuron from a rectal mucosa biopsy. The report illustrates the possible overlap between SPG11 and GM2-gangliosidosis, especially in the first disease phases and helps to improve our knowledge about SPG11 physiopathology.

Keywords: GM2-gangliosidosis; Lipofuscin-like inclusions; Spastic paraplegia type 11.

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References

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