Abstract
Introduction: Miller Fisher syndrome and the pharyngo-cervico-brachial variant have been considered as independent forms of Guillain-Barré Syndrome. However, in the light of current knowledge, these entities could be linked as their manifestations may overlap. Anti-ganglioside antibodies are a useful serological marker to define evolution and prognosis.
The aim of this work is to present and analyze the clinical case of a patient with a craniobulbar paralytic syndrome resulting from the mixed phenotype between Miller Fisher and the pharyngo-cervico-brachial variant associated with anti-GD1a and anti-GQ1b antibodies.
Case Presentation: A 43-year-old male patient was admitted to the emergency room due to dysphagia, dysarthria, ophthalmoplegia, facial and upper limb weakness, and areflexia that progressed to respiratory failure. Nerve conduction study showed an axonal polineuropathy and cerebrospinal fluid had albumin-cytologic dissociation. The anti-ganglioside antibody panel was strongly positive for anti-GD1a and positive for anti-GQ1b. Treatment was started with intravenous immunoglobulin, which had to be replaced by plasmapheresis due to renal impairment. After five weeks, the patient regained respiratory autonomy and was referred to a rehabilitation center, with full recovery after 6 months.
Discussion: The differential diagnosis of paralytic craniobulbar syndrome includes neuromuscular junction diseases, brain stem or meninges structural lesions, and inflammatory polyradiculoneuropathies. The electrophysiological findings in this case are consistent with axonal polyneuropathy. The detection of anti-GQ1b and anti-GD1a antibodies provide relevant information for the understanding of this rare phenotype.
Conclusion: This case illustrates the mechanisms, differential diagnosis, electrophysiological and serological manifestations of the overlap of different clinical phenotypes.
References
Fisher M. An unusual variant of acute idiopathic polyneuritis (Syndrome of Ophthalmoplegia, Ataxia and Areflexia). N Engl J Med. 1956;255(2):57-65. https://doi.org/10.1056/NEJM195607122550201
Shahrizaila N, Yuki N. Bickerstaff brainstem encephalitis and Fisher syndrome: anti-GQ1b antibody syndrome. J Neurol Neurosurg Psychiatry. 2013;84(5):576-83. https://doi.org/10.1136/jnnp-2012-302824
Wakerley BR, Yuki N. Pharyngeal-cervical-brachial variant of Guillain-Barre syndrome. J Neurol Neurosurg Psychiatry. 2014;85(3):339-44. https://doi.org/10.1136/jnnp-2013-305397
Reisin RC, Salutto VL, Aguirre F, Alvarez V, Barroso F, Bendersky M, et al. Usefulness of the identification of antibodies in peripheral neuropathies, neuronopathies and ganglionopathies: review. Neurol Argentina. 2020;12(2):98-112. https://doi.org/10.1016/j.neuarg.2020.01.004
Willison HJ. Anti-ganglioside antibodies in peripheral nerve pathology. En: Clifton NJ, ed. Methods in Molecular Biology. Humana Press; 2018:173-88. https://doi.org/10.1007/978-1-4939-8552-4_7
Sobel J. Botulism. Clin Infect Dis. 2005;41(8):1167-73. https://doi.org/10.1086/444507
Juel VC. Evaluation of neuromuscular junction disorders in the electromyography laboratory. Neurol Clin. 2012;30(2):621-39. https://doi.org/10.1016/j.ncl.2011.12.012
Uncini A, Kuwabara S. Electrodiagnostic criteria for Guillain–Barrè syndrome: A critical revision and the need for an update. Clin Neurophysiol. 2012;123(8):1487-95. https://doi.org/10.1016/j.clinph.2012.01.025
Ho TW, Willison HJ, Nachamkin I, Li CY, Veitch J, Ung H, et al. Anti-GD1a antibody is associated with axonal but not demyelinating forms of Guillain-Barré syndrome. Ann Neurol. 1999;45(2):168-73. https://doi.org/10.1002/1531-8249(199902)45:2%3C168::AID-ANA6%3E3.0.CO;2-6
Funakoshi K, Kuwabara S, Odaka M, Hirata K, Yuki N. Clinical predictors of mechanical ventilation in Fisher/Guillain- Barré overlap syndrome. J Neurol Neurosurg Psychiatry. 2009;80(1):60-5. https://doi.org/10.1136/jnnp.2008.154351
van den Berg B, Walgaard C, Drenthen J, Fokke C, Jacobs BC, van Doorn PA. Guillain–Barré syndrome: pathogenesis, diagnosis, treatment and prognosis. Nat Rev Neurol. 2014;10(8):469-82. https://doi.org/10.1038/nrneurol.2014.121
Dimachkie MM, Saperstein DS. Acquired immune demyelinating neuropathies. Contin Lifelong Learn Neurol. 2014;20(5):1241-60. https://doi.org/10.1212/01.CON.0000455883.91426.12
Koga M, Takahashi M, Masuda M, Hirata K, Yuki N. Campylobacter gene polymorphism as a determinant of clinical features of Guillain–Barré syndrome. Neurology. 2005;65(9):1376-81. https://doi.org/10.1212/01.wnl.0000176914.70893.14

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