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 Citation (Scopus)

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.

Original languageSpanish
Pages (from-to)e7645
JournalMedwave
Volume19
Issue number5
DOIs
StatePublished - Jun 4 2019

Fingerprint

Congenital Myasthenic Syndromes
Parents
Eyelids
Mutation
Action Potentials
Pyridostigmine Bromide
Inborn Genetic Diseases
Muscle Hypotonia
Electromyography
Synaptic Transmission
Respiratory Insufficiency
Brain Stem
Physical Examination
Sports
Pneumonia
Hospitalization
Exercise
Muscles
Genes
peripheral membrane protein 43K

Keywords

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

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Síndrome miasténico congénito por deficiencia de rapsina : reporte de caso con nueva mutación y heterocigosidad compuesta. / Espinoza, Ivan O.; Reynoso, Carolina; Chávez, Giulliana; Engel, Andrew G.

In: Medwave, Vol. 19, No. 5, 04.06.2019, p. e7645.

Research output: Contribution to journalArticle

Espinoza, Ivan O. ; Reynoso, Carolina ; Chávez, Giulliana ; Engel, Andrew G. / Síndrome miasténico congénito por deficiencia de rapsina : reporte de caso con nueva mutación y heterocigosidad compuesta. In: Medwave. 2019 ; Vol. 19, No. 5. pp. e7645.
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