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Print ISSN: 1792-0981 Online ISSN: 1792-1015
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Case Report Open Access

Concomitant presentation of Anderson-Tawil syndrome and myasthenia gravis in an adult patient: A case report

  • Authors:
    • Rui Fan
    • Ruirui Ji
    • Wenxin Zou
    • Guoliang Wang
    • Hu Wang
    • Daniel James Penney
    • Jin Jun Luo
    • Yuxin Fan
  • View Affiliations / Copyright

    Affiliations: John Welsh Cardiovascular Diagnostic Laboratory, Department of Pediatrics, Texas Children's Hospital, Baylor College of Medicine, Houston, TX 77030, USA, Department of Neurology, Temple University School of Medicine, Philadelphia, PA 19140, USA
    Copyright: © Fan et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 2435-2438
    |
    Published online on: September 6, 2016
       https://doi.org/10.3892/etm.2016.3673
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Abstract

Andersen-Tawil syndrome (ATS) is an autosomal dominant, multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias and distinctive dysmorphic facial or skeletal features. The disorder displays marked intrafamilial variability and incomplete penetrance. Myasthenia gravis (MG) is an autoimmune disorder that demonstrates progressive fatigability, in which the nicotinic acetylcholine receptor (AChR) at neuromuscular junctions is the primary autoantigen. The present study reports a rare case of a 31‑year‑old woman with a history of morbid obesity and periodic weakness, who presented with hemodynamic instability, cardiogenic shock and facial anomalies. Laboratory results revealed hypokalemia and an elevated anti‑AChR antibody expression levels. Electrocardiography demonstrated prolonged QT‑interval, ST‑elevation, and subsequent third‑degree atrioventricular block. Neurological examination revealed bilateral ptosis, horizontal diplopia, dysarthria and generalized weakness. No mutations in the potassium channel inwardly rectifying subfamily J member 2 gene were detected in the present case. The patient was treated with oral potassium supplementation and an acetylcholinesterase inhibitor (pyridostigmine), after which the symptoms were improved. To the best of our knowledge, the present case report was the first to describe concomitant presentation of both ATS and MG, which represents a diagnostic and therapeutic challenge.
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Copy and paste a formatted citation
Spandidos Publications style
Fan R, Ji R, Zou W, Wang G, Wang H, Penney DJ, Luo JJ and Fan Y: Concomitant presentation of Anderson-Tawil syndrome and myasthenia gravis in an adult patient: A case report. Exp Ther Med 12: 2435-2438, 2016.
APA
Fan, R., Ji, R., Zou, W., Wang, G., Wang, H., Penney, D.J. ... Fan, Y. (2016). Concomitant presentation of Anderson-Tawil syndrome and myasthenia gravis in an adult patient: A case report. Experimental and Therapeutic Medicine, 12, 2435-2438. https://doi.org/10.3892/etm.2016.3673
MLA
Fan, R., Ji, R., Zou, W., Wang, G., Wang, H., Penney, D. J., Luo, J. J., Fan, Y."Concomitant presentation of Anderson-Tawil syndrome and myasthenia gravis in an adult patient: A case report". Experimental and Therapeutic Medicine 12.4 (2016): 2435-2438.
Chicago
Fan, R., Ji, R., Zou, W., Wang, G., Wang, H., Penney, D. J., Luo, J. J., Fan, Y."Concomitant presentation of Anderson-Tawil syndrome and myasthenia gravis in an adult patient: A case report". Experimental and Therapeutic Medicine 12, no. 4 (2016): 2435-2438. https://doi.org/10.3892/etm.2016.3673
Copy and paste a formatted citation
x
Spandidos Publications style
Fan R, Ji R, Zou W, Wang G, Wang H, Penney DJ, Luo JJ and Fan Y: Concomitant presentation of Anderson-Tawil syndrome and myasthenia gravis in an adult patient: A case report. Exp Ther Med 12: 2435-2438, 2016.
APA
Fan, R., Ji, R., Zou, W., Wang, G., Wang, H., Penney, D.J. ... Fan, Y. (2016). Concomitant presentation of Anderson-Tawil syndrome and myasthenia gravis in an adult patient: A case report. Experimental and Therapeutic Medicine, 12, 2435-2438. https://doi.org/10.3892/etm.2016.3673
MLA
Fan, R., Ji, R., Zou, W., Wang, G., Wang, H., Penney, D. J., Luo, J. J., Fan, Y."Concomitant presentation of Anderson-Tawil syndrome and myasthenia gravis in an adult patient: A case report". Experimental and Therapeutic Medicine 12.4 (2016): 2435-2438.
Chicago
Fan, R., Ji, R., Zou, W., Wang, G., Wang, H., Penney, D. J., Luo, J. J., Fan, Y."Concomitant presentation of Anderson-Tawil syndrome and myasthenia gravis in an adult patient: A case report". Experimental and Therapeutic Medicine 12, no. 4 (2016): 2435-2438. https://doi.org/10.3892/etm.2016.3673
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