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CC BY 4.0 · Arq Neuropsiquiatr 2023; 81(03): 322-323
DOI: 10.1055/s-0043-1763299
Images in Neurology

Dysgenesis of the posterior segment of the corpus callosum: don't miss SPG45!

Disgenesia do segmento posterior do corpo caloso: lembre-se da SPG45!
Daniel de Faria Guimarães 
1   Santa Casa de Misericórdia de São Paulo, Faculdade de Ciências Médicas, Departamento de Radiologia, São Paulo SP, Brazil.
2   Grupo DASA São Paulo, Departamento de Radiologia, São Paulo SP, Brazil.
,
Ana Luiza Viegas de Almeida 
3   Clínica Vita, Departamento de Neurologia Pediátrica, São Paulo SP, Brazil.
,
Felipe Alba Scortegagna 
1   Santa Casa de Misericórdia de São Paulo, Faculdade de Ciências Médicas, Departamento de Radiologia, São Paulo SP, Brazil.
2   Grupo DASA São Paulo, Departamento de Radiologia, São Paulo SP, Brazil.
,
Renato Hoffmann Nunes 
1   Santa Casa de Misericórdia de São Paulo, Faculdade de Ciências Médicas, Departamento de Radiologia, São Paulo SP, Brazil.
2   Grupo DASA São Paulo, Departamento de Radiologia, São Paulo SP, Brazil.
,
Simone Consuelo Amorim 
3   Clínica Vita, Departamento de Neurologia Pediátrica, São Paulo SP, Brazil.
,
Felipe Torres Pacheco 
1   Santa Casa de Misericórdia de São Paulo, Faculdade de Ciências Médicas, Departamento de Radiologia, São Paulo SP, Brazil.
2   Grupo DASA São Paulo, Departamento de Radiologia, São Paulo SP, Brazil.
,
Fernando Kok 
4   Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brazil.
5   Mendelics Análise Genômica, São Paulo SP, Brazil.
,
Antonio José da Rocha 
1   Santa Casa de Misericórdia de São Paulo, Faculdade de Ciências Médicas, Departamento de Radiologia, São Paulo SP, Brazil.
2   Grupo DASA São Paulo, Departamento de Radiologia, São Paulo SP, Brazil.
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In hereditary spastic paraplegias (HSPs), magnetic resonance imaging (MRI) scans of the brain typically show the involvement of the anterior part of the corpus callosum with abnormalities in the white matter fibers of the forceps minor(“ears of the lynx sign”). However, these imaging findings are particularly associated with spastic paraplegia type 11 (SPG11) or spastic paraplegia type 15 (SPG15).[1]

A child with spastic gait achieved independent walking at the age of 2 years, and 3 years later was referred to our service for investigation. A brain MRI demonstrated corpus callosum dysgenesis and peritrigonal white matter abnormality ([Figure 1]). Whole exome sequencing revealed compound heterozygosity for two novel likely pathogenic variants in NT5C2 (p.[Leu468Pro] and p.[Gln542Argfs*71]), consistent with SPG45, of the SPG subtypes with thin corpus callosum.[2]

Zoom Image
Figure 1 Brain MRI. (A) Sagittal T1 postcontrast shows hypoplastic corpus callosum with marked reduction of the splenium and posterior segment of its body (arrows), characteristic, even though not specific, of this disease. (B) Axial fluid-attenuated inversion recovery (FLAIR) demonstrates symmetric and bilateral peritrigonal white matter changes (arrowheads). The ears of the lynx sign is not usually observed in these cases.

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Conflict of Interest

The authors have no conflict of interests to declare.

Authors' Contributions

DFG: selection of imaging scans and writing of the manuscript; ALVA: writing of the manuscript; FAS, RHN, SCA, FTP, FK, AJR: study concept, interpretation of data, and critical revision of the manuscript.


  • References

  • 1 Pascual B, de Bot ST, Daniels MR. et al. “Ears of the Lynx” MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia. AJNR Am J Neuroradiol 2019; 40 (01) 199-203
    CrossrefPubMedSuche in Google Scholar
  • 2 Elsaid MF, Ibrahim K, Chalhoub N, Elsotouhy A, El Mudehki N, Abdel Aleem A. NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup. BMC Med Genet 2017; 18 (01) 33
    CrossrefPubMedSuche in Google Scholar

Address for correspondence

Felipe Torres Pacheco

Publikationsverlauf

Eingereicht: 19. August 2022

Angenommen: 21. Oktober 2022

Artikel online veröffentlicht:
14. April 2023

© 2023. Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/)

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  • References

  • 1 Pascual B, de Bot ST, Daniels MR. et al. “Ears of the Lynx” MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia. AJNR Am J Neuroradiol 2019; 40 (01) 199-203
    CrossrefPubMedSuche in Google Scholar
  • 2 Elsaid MF, Ibrahim K, Chalhoub N, Elsotouhy A, El Mudehki N, Abdel Aleem A. NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup. BMC Med Genet 2017; 18 (01) 33
    CrossrefPubMedSuche in Google Scholar

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Zoom Image
Figure 1 Brain MRI. (A) Sagittal T1 postcontrast shows hypoplastic corpus callosum with marked reduction of the splenium and posterior segment of its body (arrows), characteristic, even though not specific, of this disease. (B) Axial fluid-attenuated inversion recovery (FLAIR) demonstrates symmetric and bilateral peritrigonal white matter changes (arrowheads). The ears of the lynx sign is not usually observed in these cases.