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CC BY-NC-ND 4.0 · Arq Neuropsiquiatr 2017; 75(01): 72-73
DOI: 10.1590/0004-282X20160171
Images in Neurology

Muscle biopsy with dystrophic pattern and rimmed vacuoles: GNE myopathy in a Brazilian patient

Biópsia de músculo mostrando padrão distrófico e vacúolos marginados: um caso de miopatia GNE em uma paciente brasileira
Eduardo de Paula Estephan
1   Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brasil
,
Cristiane Araújo Martins Moreno
1   Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brasil
,
André Macedo Serafim da Silva
1   Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brasil
,
Rodrigo de Holanda Mendonça
1   Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brasil
,
Osório Abath Neto
1   Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brasil
,
Patrícia Yoshi Nishimura
2   Laboratório DASA, Diagnóstico Molecular, São Paulo SP, Brasil
,
Layla Testa Galindo
2   Laboratório DASA, Diagnóstico Molecular, São Paulo SP, Brasil
,
Edmar Zanoteli
1   Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brasil
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GNE myopathy (MIM#605820) is a rare autosomal recessive disorder with a higher prevalence in individuals with Middle Eastern or Japanese ancestries[1]. We present a 23-year-old Brazilian female, without such ancestries, with slowly progressive distal and proximal weakness in her lower limbs since the age of 18. Within five years, weakness progressed to her upper limbs and led to loss of ambulation (sparing the quadriceps somewhat). The muscle biopsy is shown in the [Figure]. Exome analysis revealed compound heterozygous variants on GNE gene (p.Arg193Cys, known[2], and p.Arg132Cys, novel). This is the first South American patient report, which illustrates the utility of high-throughput sequencing to diagnose rare and potentially treatable disorders[1],[3].

Zoom Image
Figure Dystrophic pattern with rimmed vacuoles with autophagic aspect (arrows) on muscle biopsy. A) H&E (bar= 50 μm). B) Gomori's trichrome (bar= 50 μm). C) Acid phosphatase (bar= 50 μm). D) Electron microscopy (bar = 1000 nm).


Publication History

Received: 22 July 2016

Accepted: 01 September 2016

Article published online:
06 September 2023

© 2023. 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

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  • 2 Del Bo R, Baron P, Prelle A, Serafini M, Moggio M, Fonzo AD et al. Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy. Muscle Nerve. 2003;28(1):113-7. doi:10.1002/mus.10391
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