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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
Neuromuscular Disorders: NMD 2012, 22 (6): 546-8
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.

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