Fetal acetylcholine receptor inactivation syndrome and maternal myasthenia gravis: A case report

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...

Full description

Bibliographic Details
Main Authors: D'Amico, A, Bertini, E, Bianco, F, Papacci, P, Jacobson, L, Vincent, A, Mercuri, E
Format: Journal article
Language:English
Published: 2012
_version_ 1797067965792780288
author D'Amico, A
Bertini, E
Bianco, F
Papacci, P
Jacobson, L
Vincent, A
Mercuri, E
author_facet D'Amico, A
Bertini, E
Bianco, F
Papacci, P
Jacobson, L
Vincent, A
Mercuri, E
author_sort D'Amico, A
collection OXFORD
description 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. © 2012 Elsevier B.V.
first_indexed 2024-03-06T22:03:58Z
format Journal article
id oxford-uuid:4f87bf3e-a29c-42ce-bccf-7003f38d4490
institution University of Oxford
language English
last_indexed 2024-03-06T22:03:58Z
publishDate 2012
record_format dspace
spelling oxford-uuid:4f87bf3e-a29c-42ce-bccf-7003f38d44902022-03-26T16:07:46ZFetal acetylcholine receptor inactivation syndrome and maternal myasthenia gravis: A case reportJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:4f87bf3e-a29c-42ce-bccf-7003f38d4490EnglishSymplectic Elements at Oxford2012D'Amico, ABertini, EBianco, FPapacci, PJacobson, LVincent, AMercuri, EFetal 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. © 2012 Elsevier B.V.
spellingShingle D'Amico, A
Bertini, E
Bianco, F
Papacci, P
Jacobson, L
Vincent, A
Mercuri, E
Fetal acetylcholine receptor inactivation syndrome and maternal myasthenia gravis: A case report
title Fetal acetylcholine receptor inactivation syndrome and maternal myasthenia gravis: A case report
title_full Fetal acetylcholine receptor inactivation syndrome and maternal myasthenia gravis: A case report
title_fullStr Fetal acetylcholine receptor inactivation syndrome and maternal myasthenia gravis: A case report
title_full_unstemmed Fetal acetylcholine receptor inactivation syndrome and maternal myasthenia gravis: A case report
title_short Fetal acetylcholine receptor inactivation syndrome and maternal myasthenia gravis: A case report
title_sort fetal acetylcholine receptor inactivation syndrome and maternal myasthenia gravis a case report
work_keys_str_mv AT damicoa fetalacetylcholinereceptorinactivationsyndromeandmaternalmyastheniagravisacasereport
AT bertinie fetalacetylcholinereceptorinactivationsyndromeandmaternalmyastheniagravisacasereport
AT biancof fetalacetylcholinereceptorinactivationsyndromeandmaternalmyastheniagravisacasereport
AT papaccip fetalacetylcholinereceptorinactivationsyndromeandmaternalmyastheniagravisacasereport
AT jacobsonl fetalacetylcholinereceptorinactivationsyndromeandmaternalmyastheniagravisacasereport
AT vincenta fetalacetylcholinereceptorinactivationsyndromeandmaternalmyastheniagravisacasereport
AT mercurie fetalacetylcholinereceptorinactivationsyndromeandmaternalmyastheniagravisacasereport