Fetal acetylcholine receptor inactivation syndrome and maternal myasthenia gravis

A case report

Adele D'Amico, Enrico Bertini, Flaviana Bianco, Patrizia Papacci, Leslie Jacobson, Angela Vincent, Eugenio Mercuri

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

Fetal acetylcholine receptor inactivation syndrome is a rare condition occurring in newborns of myasthenic mothers, characterized by bulbar and facial weakness after recovery from the generalized muscle weakness. Antibodies against fetal subunit of acetylcholine receptor seem to have a pathogenetic role leading to long-lasting injury in vulnerable muscle groups. We report a girl, born to a myasthenic mother, who presented with this peculiar phenotype associated with high titers of antibodies specific to the fetal acetylcholine receptor. Although the infant had partial clinical improvement she died prematurely of aspiration pneumonia. We believe that this is a rare but possibly unrecognized condition that should be considered in newborns with persistent myasthenic features even in asymptomatic mothers, and clinicians should consider supportive intervention to avoid fatal complications.

Original languageEnglish
Pages (from-to)546-548
Number of pages3
JournalNeuromuscular Disorders
Volume22
Issue number6
DOIs
Publication statusPublished - Jun 2012

Fingerprint

Myasthenia Gravis
Muscle Weakness
Cholinergic Receptors
Mothers
Newborn Infant
Aspiration Pneumonia
Antibodies
Phenotype
Muscles
Wounds and Injuries

Keywords

  • Arthrogryposis
  • Fetal AChR antibodies
  • Myasthenia

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)
  • Neurology

Cite this

Fetal acetylcholine receptor inactivation syndrome and maternal myasthenia gravis : A case report. / D'Amico, Adele; Bertini, Enrico; Bianco, Flaviana; Papacci, Patrizia; Jacobson, Leslie; Vincent, Angela; Mercuri, Eugenio.

In: Neuromuscular Disorders, Vol. 22, No. 6, 06.2012, p. 546-548.

Research output: Contribution to journalArticle

D'Amico, Adele ; Bertini, Enrico ; Bianco, Flaviana ; Papacci, Patrizia ; Jacobson, Leslie ; Vincent, Angela ; Mercuri, Eugenio. / Fetal acetylcholine receptor inactivation syndrome and maternal myasthenia gravis : A case report. In: Neuromuscular Disorders. 2012 ; Vol. 22, No. 6. pp. 546-548.
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