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Case Report
Charcot-Marie-Tooth disease type 2S: Case report of a rare form associated with spinal muscular atrophy type IV
1 Department of Neurology – UNIG and Coordinator of the Academic Master's Degree in Neurology at the University of Vassouras, Vassouras, RJ, Brazil
2 Department of Medicine – UNIFESP – Paulista School of Medicine, Sao Paulo, Brazil
3 Iguaçu University – UNIG – Hospital Geral de Nova Iguaçu, Nova Iguaçu, RJ, Brazil
4 Federal Institute of Education, Science and Technology of Rio de Janeiro – IFRJ, Niterói, RJ, Brazil; 5Medical Student Mato Grosso State University (UNEMAT), Cáceres, MT, Brazil
5 Medical Student Mato Grosso State University (UNEMAT), Cáceres, MT, Brazil
6 Department of Neurology, The Federal University of Rio de Janeiro – UFRJ, Rio de Janeiro, RJ, Brazil
Address correspondence to:
Antônio Marcos da Silva Catharino
Rua Gavião Peixoto 70, Room 811, CEP 24.2230-100, Icaraí, Niterói-RJ,
Brazil
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Article ID: 101255Z01MO2021
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How to cite this article
Orsini M, Oliveira ASB, Catharino AMS, Junior MSA, Souza FS, de Freitas MRG. Charcot-Marie-Tooth disease type 2S: Case report of a rare form associated with spinal muscular atrophy type IV. Int J Case Rep Images 2021;12:101255Z01MO2021.ABSTRACT
Introduction: Charcot-Marie-Tooth disease (CMT) is one of the most frequent diseases of the peripheral nervous system, occupying the first place among hereditary neuromuscular disorders. In some patients, a better characterization of inheritance is possible, especially in those with large families. The presence of a sibling with a similar disease, in the absence of consanguineous parents, signals us as an autosomal recessive inheritance. In others, this distinction becomes more complex, requiring genetic evaluation when necessary.
Case Report: We report the case of a 40-year-old patient who started the first symptoms in childhood, with a Charcot-Marie-Tooth Disease phenotype, but findings of injury in the anterior tip of the spinal cord; including with diaphragmatic involvement. The way the disease evolved and, obviously, the early onset of the clinic and the motor disability drew our attention; she never walked. After a genetic panel to identify a possible overlap of two diseases, we obtained an alteration in the IGHMBP2 gene.
Conclusion: In our case, the patient presents an overlapping finding of suffering from the peripheral nerves and the second motor neuron. Genetic testing was extremely important in the present case, as it revealed two variants, expanding the phenotype of these conditions and warning about respiratory involvement.
Keywords: Genetics, Motor neuron diseases, Peripheral neuropathies, Respiratory muscles
SUPPORTING INFORMATION
Author Contributions
Marco Orsini - Substantial contributions to conception and design, Acquisition of data, Revising it critically for important intellectual content, Final approval of the version to be published
Acary Souza Bulle Oliveira - Analysis of data, Revising it critically for important intellectual content, Final approval of the version to be published
Antônio Marcos da Silva Catharino - Analysis of data, Revising it critically for important intellectual content, Final approval of the version to be published
Mauricio Sant’ Anna Junior - Acquisition of data, Analysis of data, Revising it critically for important intellectual content, Final approval of the version to be published
Felipe dos Santos Souza - Analysis of data, Revising it critically for important intellectual content, Final approval of the version to be published
Marcos RG de Freitas - Acquisition of data, Analysis of data, Revising it critically for important intellectual content, Final approval of the version to be published
Guaranter of SubmissionThe corresponding author is the guarantor of submission.
Source of SupportNone
Consent StatementWritten informed consent was obtained from the patient for publication of this article.
Data AvailabilityAll relevant data are within the paper and its Supporting Information files.
Conflict of InterestAuthors declare no conflict of interest.
Copyright© 2021 Marco Orsini et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.
