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2017, Number 4

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Rev Med MD 2017; 8.9 (4)

Guillain-Barré syndrome in a multi-syndromic patient: Case presentation and literature review

Villalobos-Lizardi JC, Gálvez-López AG, Romero-González AE, Del Rio-Mendoza ED

Language: Spanish
References: 12
Page: 177-181
PDF size: 826.24 Kb.


ABSTRACT

Guillain-Barré syndrome is a group of heterogeneous acute polyneuropathies, most frequently associated with a previous enteric infection, with little evidence of associated genetic mutations. Klippel-Feil syndrome and Holt-Oram syndrome are two rare genetic disorders with well-described phenotype-gene relationships. The concurrency of these three syndromes has never been documented in the literature. We present the case of a 14-year old female with Guillain- Barré syndrome with demyelinating and axonal acute motor findings who also has Tetralogy of Fallot, Holt Oram and Klippel Feil syndrome, with the objective of studying this atypical presentation. Although the chromosomal mutations of these three syndromes have not been previously related, this represents a new line of investigation to expand the understanding of the affected patients.


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