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CC BY-NC-ND 4.0 · Arq Neuropsiquiatr 2020; 78(09): 596
DOI: 10.1590/0004-282X20200037
Images in Neurology

STIR and diffusion-weighted MRI in asymptomatic hyperCKemia caused by ANO5-related myopathy

Sequências de difusão e STIR na ressonância magnética em hiperCKemia assintomática causada por miopatia associada ao ANO5
André Macedo Serafim SILVA 
1   Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brazil.
,
Júlio Brandão GUIMARÃES 
1   Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brazil.
2   Fleury Medicina e Saúde, São Paulo SP, Brazil.
,
Flávia Costa Nunes MACHADO 
1   Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brazil.
2   Fleury Medicina e Saúde, São Paulo SP, Brazil.
,
Edmar ZANOTELI 
1   Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brazil.
2   Fleury Medicina e Saúde, São Paulo SP, Brazil.
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A 16-year-old man presented with four years of persistent hyperCKemia (20x the upper limit of the normal level) without any symptoms. The neurological examination was normal. No relevant family history or consanguinity were reported. A whole-body muscle MRI revealed normal T1 images, but it depicted hyperintensity in the medial gastrocnemius muscles by short tau inversion recovery (STIR) and diffusion-weighted imaging (DWI) sequences ([Figure 1]). Next-generation sequencing showed two variants, c.191dupA and c.2294A>G, in the ANO5 that encodes anoctamin-5, a chloride channel important for muscle membrane repair[1]. Up to one-fourth of patients with recessive ANO5 mutations present with isolated hyperCKemia[2], and STIR/DWI hyperintensity can be the only relevant abnormality.

Zoom Image
Figure 1 MRI in asymptomatic hyperCKemia with ANO5 recessive variants.(A) Axial T1-weighted MRI of the legs shows no atrophy or fat infiltration. (B) Axial STIR-weighted MRI of the legs demonstrates bilateral symmetric diffuse edema of the medial gastrocnemius muscles (arrows). (C) A b-value of 800 s/mm2 diffusion-weighted WBMRI shows bilateral increased signal of the medial gastrocnemius muscles (arrowheads).

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Conflict of interest:

There is no conflict of interest to declare.

Dr. Silva: Study concept, acquisition and analysis of data, literature review, and initial draft of the paper.


Dr. Guimarães: Acquisition and analysis of data, literature review, and critical revision of manuscript for intellectual content.


Dr. Machado: Acquisition and analysis of data, literature review, and critical revision of manuscript for intellectual content.


Dr. Zanoteli: Study concept, acquisition and analysis of data, literature review, and critical revision of manuscript for intellectual content.


Disclosures:

6 Dr. Silva, Dr. Guimarães, Dr. Machado, and Dr. Zanoteli report no disclosures relevant to the manuscript.


  • References

  • 1 Bolduc V, Marlow G, Boycott KM, Saleki K, Inoue H, Kroon J, et al. Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. Am J Hum Genet. 2010 Feb; 86(2): 213-21. https://doi.org/10.1016/j.ajhg.2009.12.013
  • 2 Silva AMS, Coimbra-Neto AR, Souza PVS, Winckler PB, Gonçalves MVM, Cavalcanti EBU, et al. Clinical and molecular findings in a cohort of ANO5-related myopathy. Ann Clin Transl Neurol. 2019;6(7):1225-38. https://doi.org/10.1002/acn3.50801

Address for correspondence

André Macedo Serafim Silva

Publication History

Received: 10 February 2020

Accepted: 23 March 2020

Article published online:
13 June 2023

© 2020. Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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  • References

  • 1 Bolduc V, Marlow G, Boycott KM, Saleki K, Inoue H, Kroon J, et al. Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. Am J Hum Genet. 2010 Feb; 86(2): 213-21. https://doi.org/10.1016/j.ajhg.2009.12.013
  • 2 Silva AMS, Coimbra-Neto AR, Souza PVS, Winckler PB, Gonçalves MVM, Cavalcanti EBU, et al. Clinical and molecular findings in a cohort of ANO5-related myopathy. Ann Clin Transl Neurol. 2019;6(7):1225-38. https://doi.org/10.1002/acn3.50801

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Zoom Image
Figure 1 MRI in asymptomatic hyperCKemia with ANO5 recessive variants.(A) Axial T1-weighted MRI of the legs shows no atrophy or fat infiltration. (B) Axial STIR-weighted MRI of the legs demonstrates bilateral symmetric diffuse edema of the medial gastrocnemius muscles (arrows). (C) A b-value of 800 s/mm2 diffusion-weighted WBMRI shows bilateral increased signal of the medial gastrocnemius muscles (arrowheads).