Frontiers in Neurology (Jun 2022)

Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings

  • Marta Gómez-García de la Banda,
  • Marta Gómez-García de la Banda,
  • Marta Gómez-García de la Banda,
  • Emmanuel Simental-Aldaba,
  • Emmanuel Simental-Aldaba,
  • Nagia Fahmy,
  • Damien Sternberg,
  • Damien Sternberg,
  • Patricia Blondy,
  • Susana Quijano-Roy,
  • Susana Quijano-Roy,
  • Susana Quijano-Roy,
  • Susana Quijano-Roy,
  • Edoardo Malfatti,
  • Edoardo Malfatti,
  • Edoardo Malfatti,
  • Edoardo Malfatti

DOI
https://doi.org/10.3389/fneur.2022.909715
Journal volume & issue
Vol. 13

Abstract

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Congenital myasthenic syndromes (CMS) are inherited disorders that lead to abnormal neuromuscular transmission. Post-synaptic mutations are the main cause of CMS, particularly mutations in CHRNE. We report a novel homozygous CHRNE pathogenic variant in two Egyptian siblings showing a CMS. Interestingly, they showed different degrees of extraocular and skeletal muscle involvement; both presented only a partial response to cholinesterase inhibitors, and rapidly and substantially ameliorated after the addition of oral β2 adrenergic agonists. Here, we enlarge the genetic spectrum of CHRNE-related congenital myasthenic syndromes and highlight the importance of a β2 adrenergic agonists treatment.

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