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Article: Severe congenital myasthenia gravis of the presynaptic type with choline acetyltransferase mutation in a Chinese infant with respiratory failure

TitleSevere congenital myasthenia gravis of the presynaptic type with choline acetyltransferase mutation in a Chinese infant with respiratory failure
Authors
Issue Date2009
PublisherS Karger AG. The Journal's web site is located at http://www.karger.com/BON
Citation
Neonatology, 2009, v. 95 n. 2, p. 183-186 How to Cite?
Abstract
We report a severe case of congenital myasthenia gravis in a Chinese newborn who presented with complete ptosis, severe hypotonia, dysphagia and respiratory insufficiency with recurrent apnea that required mechanical ventilatory support since birth. Routine neurophysiologic studies, including the 3-Hz repetitive stimulation test and electromyogram were normal. Neostigmine and edrophonium tests were also negative. However, decremental response to 3-Hz stimulation became apparent after depleting the muscles with trains of 10-Hz stimuli for 10 min. The infant was subsequently confirmed to have heterozygous mutations in the choline acetyltransferase genes, p.T553N and p.S704P. Both missense mutations are novel mutations. The child remained on positive pressure ventilation at 3 years of age despite treatment with high-dose anticholinesterase. This case highlights the difficulty of making an early diagnosis based on clinical presentation and routine electrophysiologic tests, especially when neonatologists are not familiar with this condition. Further, as there are different genetic defects causing different types of congenital myasthenia gravis, anticholinesterase therapy may be beneficial to some but detrimental to others. Therefore, the exact molecular diagnosis is an important guide to therapy. A high index of suspicion coupled with extended electrodiagnostic tests in clinically suspected patients will ensure the selection of appropriate genetic molecular study for confirming the diagnosis. Copyright © 2008 S. Karger AG.
Persistent Identifierhttp://hdl.handle.net/10722/148579
ISSN
2013 Impact Factor: 2.369
2013 SCImago Journal Rankings: 1.405
ISI Accession Number ID
References

 

Author Affiliations
  1. Prince of Wales Hospital Hong Kong
DC FieldValueLanguage
dc.contributor.authorYeung, WLen_US
dc.contributor.authorLam, CWen_US
dc.contributor.authorFung, LWEen_US
dc.contributor.authorHon, KLEen_US
dc.contributor.authorNg, PCen_US
dc.date.accessioned2012-05-29T06:13:51Z-
dc.date.available2012-05-29T06:13:51Z-
dc.date.issued2009en_US
dc.identifier.citationNeonatology, 2009, v. 95 n. 2, p. 183-186en_US
dc.identifier.issn1661-7800en_US
dc.identifier.urihttp://hdl.handle.net/10722/148579-
dc.description.abstractWe report a severe case of congenital myasthenia gravis in a Chinese newborn who presented with complete ptosis, severe hypotonia, dysphagia and respiratory insufficiency with recurrent apnea that required mechanical ventilatory support since birth. Routine neurophysiologic studies, including the 3-Hz repetitive stimulation test and electromyogram were normal. Neostigmine and edrophonium tests were also negative. However, decremental response to 3-Hz stimulation became apparent after depleting the muscles with trains of 10-Hz stimuli for 10 min. The infant was subsequently confirmed to have heterozygous mutations in the choline acetyltransferase genes, p.T553N and p.S704P. Both missense mutations are novel mutations. The child remained on positive pressure ventilation at 3 years of age despite treatment with high-dose anticholinesterase. This case highlights the difficulty of making an early diagnosis based on clinical presentation and routine electrophysiologic tests, especially when neonatologists are not familiar with this condition. Further, as there are different genetic defects causing different types of congenital myasthenia gravis, anticholinesterase therapy may be beneficial to some but detrimental to others. Therefore, the exact molecular diagnosis is an important guide to therapy. A high index of suspicion coupled with extended electrodiagnostic tests in clinically suspected patients will ensure the selection of appropriate genetic molecular study for confirming the diagnosis. Copyright © 2008 S. Karger AG.en_US
dc.languageengen_US
dc.publisherS Karger AG. The Journal's web site is located at http://www.karger.com/BONen_US
dc.relation.ispartofNeonatologyen_US
dc.subject.meshCholine O-Acetyltransferase - Geneticsen_US
dc.subject.meshElectromyographyen_US
dc.subject.meshFemaleen_US
dc.subject.meshHeterozygoteen_US
dc.subject.meshHumansen_US
dc.subject.meshInfant, Newbornen_US
dc.subject.meshMutationen_US
dc.subject.meshMyasthenic Syndromes, Congenital - Complications - Diagnosis - Enzymologyen_US
dc.subject.meshRespiration, Artificialen_US
dc.subject.meshRespiratory Insufficiency - Diagnosis - Enzymology - Etiologyen_US
dc.titleSevere congenital myasthenia gravis of the presynaptic type with choline acetyltransferase mutation in a Chinese infant with respiratory failureen_US
dc.typeArticleen_US
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_US
dc.identifier.authorityLam, CW=rp00260en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1159/000155612en_US
dc.identifier.pmid18797171en_US
dc.identifier.scopuseid_2-s2.0-51549115721en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-51549115721&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume95en_US
dc.identifier.issue2en_US
dc.identifier.spage183en_US
dc.identifier.epage186en_US
dc.identifier.isiWOS:000260682900012-
dc.publisher.placeSwitzerlanden_US

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