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Pediatric Miller Fisher Syndrome and Ocular Myasthenia Gravis (A Reminder of Clinical Mimicry): A Case ReportFunding None.
Miller Fisher syndrome (MFS) is a rare immune-mediated neuropathy that often presents with diplopia and bilateral external ophthalmoplegia. Other neurological deficits may occur such as ataxia and areflexia but not in all cases. Although MFS is a clinical diagnosis, serological confirmation is possible by identifying the anti-GQ1b antibody found in the majority of patients. Myasthenia gravis is an autoimmune disorder of the availability of acetylcholine receptors in the neuromuscular junction. Ocular myasthenia gravis is a disease subtype characterized by variable patterns of weakness of extraocular muscles, eyelid elevator, and orbicular muscle in which the initial sign in most adults and children is ptosis. We report a child with MFS who presented with clinical signs suggestive of ocular myasthenia gravis, but in whom the correct diagnosis was made on the basis of serological testing for the anti-GQ1b antibody. We aim to highlight the similarity between the two rare conditions and address the importance of early liaison with neurologists and ophthalmologists in reaching to the proper diagnosis.
Received: 17 May 2021
Accepted: 13 June 2021
Article published online:
22 July 2021
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- 1 Willison HJ, O'Hanlon GM. The immunopathogenesis of Miller Fisher syndrome. J Neuroimmunol 1999; 100 (1-2): 3-12
- 2 Boylu EE, Toğrol RE, Senol MG, Ozdağ MF, Saraçoğlu M. Role of anti-GQ1B antibody in differential diagnosis of acute ophthalmoparesis. Neuropsychiatr Dis Treat 2010; 6: 119-122
- 3 Ortiz S, Borchert M. Long-term outcomes of pediatric ocular myasthenia gravis. Ophthalmology 2008; 115 (07) 1245-1248.e1
- 4 Motobayashi M, Inaba Y, Nishimura T, Kobayashi N, Nakazawa Y, Koike K. An increase in circulating B cell-activating factor in childhood-onset ocular myasthenia gravis. Pediatr Neurol 2015; 52 (04) 404-409
- 5 Yuki N. Infectious origins of, and molecular mimicry in, Guillain-Barré and Fisher syndromes. Lancet Infect Dis 2001; 1 (01) 29-37
- 6 Silverstein MP, Zimnowodzki S, Rucker JC. Neuromuscular junction dysfunction in Miller Fisher syndrome. Semin Ophthalmol 2008; 23 (03) 211-213
- 7 Anthony SA, Thurtell MJ, Leigh RJ. Miller Fisher syndrome mimicking ocular myasthenia gravis. Optom Vis Sci 2012; 89 (12) e118-e123
- 8 Lange DJ, DeAngelis T, Sivak MA. Single-fiber electromyography shows terminal axon dysfunction in Miller Fisher syndrome: a case report. Muscle Nerve 2006; 34 (02) 232-234
- 9 Liu JX, Willison HJ, Pedrosa-Domellöf F. Immunolocalization of GQ1b and related gangliosides in human extraocular neuromuscular junctions and muscle spindles. Invest Ophthalmol Vis Sci 2009; 50 (07) 3226-3232
- 10 Gilhus NE, Skeie GO, Romi F, Lazaridis K, Zisimopoulou P, Tzartos S. Myasthenia gravis - autoantibody characteristics and their implications for therapy. Nat Rev Neurol 2016; 12 (05) 259-268
- 11 Brusa R, Faravelli I, Gagliardi D. et al. Ophthalmoplegia due to miller fisher syndrome in a patient with myasthenia gravis. Front Neurol 2019; 10: 823
- 12 Sartucci F, Cafforio G, Borghetti D, Domenici L, Orlandi G, Murri L. Electrophysiological evidence by single fibre electromyography of neuromuscular transmission impairment in a case of Miller Fisher syndrome. Neurol Sci 2005; 26 (02) 125-128