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Journal of Medical Case Reports

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Open Access 01-12-2019 | Colchicine | Case report

Whole exome sequencing in a child with acute disseminated encephalomyelitis, optic neuritis, and periodic fever syndrome: a case report

Authors: Pablo A. Ledesma, Juan Carlos Guerra, Manuel Burbano, Patricio Procel, Luis Alberto Pedroza

Published in: Journal of Medical Case Reports | Issue 1/2019

Abstract

Background

Acute disseminated encephalomyelitis is generally preceded by an infection, and it is usually self-limiting and non-recurrent. However, when there are multiple attacks of acute disseminated encephalomyelitis followed by optic neuritis, it is defined as acute disseminated encephalomyelitis-optic neuritis. To the best of our knowledge, there are no previous reports of acute disseminated encephalomyelitis and optic neuritis preceded by autoinflammation, triggered by periodic fever syndrome.

Case summary

We report on a case of acute disseminated encephalomyelitis with optic neuritis and periodic fever syndrome in a 12-year-old Ecuadorian Hispanic boy with several relapses over the past 10 years, always preceded by autoinflammatory manifestations and without evidence of infectious processes. Whole exome sequencing was performed, and although the results were not conclusive, we found variants in genes associated with both autoinflammatory (NLRP12) and neurological (POLR3A) phenotypes that could be related to the disease pathogenesis having a polygenic rather than monogenic trait.

Conclusion

We propose that an autoinflammatory basis should be pursued in patients diagnosed as having acute disseminated encephalomyelitis and no record of infections. Also, we show that our patient had a good response after 1 year of treatment with low doses of intravenous immunoglobulin and colchicine.

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Title: Whole exome sequencing in a child with acute disseminated encephalomyelitis, optic neuritis, and periodic fever syndrome: a case report
Authors: Pablo A. Ledesma
Juan Carlos Guerra
Manuel Burbano
Patricio Procel
Luis Alberto Pedroza
Publication date: 01-12-2019
Publisher: BioMed Central
Keywords: Colchicine
Multiple Sclerosis
Optic Neuritis
Published in: Journal of Medical Case Reports / Issue 1/2019
Electronic ISSN: 1752-1947
DOI: https://doi.org/10.1186/s13256-019-2305-3

ACC 2024 Congress

Springer Medicine

Whole exome sequencing in a child with acute disseminated encephalomyelitis, optic neuritis, and periodic fever syndrome: a case report

Abstract

Background

Case summary

Conclusion

ACC 2024 Congress

Springer Medicine

Abstract

Background

Case summary

Conclusion

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