Síndrome miasténico congénito por deficiencia de rapsina: reporte de caso con nueva mutación y heterocigosidad compuesta

Translated title of the contribution: Congenital myasthenic syndrome due to rapsyn deficiency: A case report with a new mutation and compound heterozygosity

Ivan O. Espinoza, Carolina Reynoso, Giulliana Chávez, Andrew G. Engel

Research output: Contribution to journalArticle

1 Scopus citations

Abstract

Introduction: The congenital myasthenic syndromes are a heterogeneous group of genetic disorders characterized by an abnormal synaptic transmission in the neuromuscular plate. Report: We present a two-year-old patient, male, with hypotonia, palpebral ptosis, and proximal symmetric weakness with a neonatal onset that motivated several and prolonged hospitalizations for pneumonia and respiratory failure. From two years of age, the parents noticed that the facial and general weakness worsened in the afternoons and with repeated or prolonged physical activity. The physical examination showed palpebral ptosis, predominantly proximal weakness, and fatigability with sustained muscular effort. The electromyography showed a 27% decrement in the Compound Muscular Action Potential and the case-parents genetic study showed compound heterozygosity with the transmission of two different mutations in the rapsyn gene from both parents. The patient received pyridostigmine with great improvement, achieving optimal performance in school, sports, and daily life activities. Conclusions: Weakness and fatigability with neonatal onset, mainly affecting the muscles with brain stem innervation and the decrement greater than 10 percent in the Compound Muscular Action Potential in the electromyographic studies, should make us suspect in a congenital myasthenic syndrome. We review the literature and key clinical points to establish a timely diagnosis and effective treatment in some of these syndromes.

Translated title of the contributionCongenital myasthenic syndrome due to rapsyn deficiency: A case report with a new mutation and compound heterozygosity
Original languageSpanish
Pages (from-to)e7645
JournalMedwave
Volume19
Issue number5
DOIs
StatePublished - Jun 4 2019

Keywords

  • congenital myasthenic syndromes
  • missense mutation
  • muscle proteins
  • myasthenia gravis
  • neuromuscular junction diseases

ASJC Scopus subject areas

  • Medicine(all)

Fingerprint Dive into the research topics of 'Congenital myasthenic syndrome due to rapsyn deficiency: A case report with a new mutation and compound heterozygosity'. Together they form a unique fingerprint.

  • Cite this