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Article: Severe congenital myasthenia gravis of the presynaptic type with choline acetyltransferase mutation in a Chinese infant with respiratory failure
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TitleSevere congenital myasthenia gravis of the presynaptic type with choline acetyltransferase mutation in a Chinese infant with respiratory failure
 
AuthorsYeung, WL1
Lam, CW1
Fung, LWE1
Hon, KLE1
Ng, PC1
 
Issue Date2009
 
PublisherS Karger AG. The Journal's web site is located at http://www.karger.com/BON
 
CitationNeonatology, 2009, v. 95 n. 2, p. 183-186 [How to Cite?]
DOI: http://dx.doi.org/10.1159/000155612
 
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.
 
ISSN1661-7800
2013 Impact Factor: 2.369
2013 SCImago Journal Rankings: 1.405
 
DOIhttp://dx.doi.org/10.1159/000155612
 
ISI Accession Number IDWOS:000260682900012
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorYeung, WL
 
dc.contributor.authorLam, CW
 
dc.contributor.authorFung, LWE
 
dc.contributor.authorHon, KLE
 
dc.contributor.authorNg, PC
 
dc.date.accessioned2012-05-29T06:13:51Z
 
dc.date.available2012-05-29T06:13:51Z
 
dc.date.issued2009
 
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.
 
dc.description.natureLink_to_subscribed_fulltext
 
dc.identifier.citationNeonatology, 2009, v. 95 n. 2, p. 183-186 [How to Cite?]
DOI: http://dx.doi.org/10.1159/000155612
 
dc.identifier.doihttp://dx.doi.org/10.1159/000155612
 
dc.identifier.epage186
 
dc.identifier.isiWOS:000260682900012
 
dc.identifier.issn1661-7800
2013 Impact Factor: 2.369
2013 SCImago Journal Rankings: 1.405
 
dc.identifier.issue2
 
dc.identifier.pmid18797171
 
dc.identifier.scopuseid_2-s2.0-51549115721
 
dc.identifier.spage183
 
dc.identifier.urihttp://hdl.handle.net/10722/148579
 
dc.identifier.volume95
 
dc.languageeng
 
dc.publisherS Karger AG. The Journal's web site is located at http://www.karger.com/BON
 
dc.publisher.placeSwitzerland
 
dc.relation.ispartofNeonatology
 
dc.relation.referencesReferences in Scopus
 
dc.subject.meshCholine O-Acetyltransferase - Genetics
 
dc.subject.meshElectromyography
 
dc.subject.meshFemale
 
dc.subject.meshHeterozygote
 
dc.subject.meshHumans
 
dc.subject.meshInfant, Newborn
 
dc.subject.meshMutation
 
dc.subject.meshMyasthenic Syndromes, Congenital - Complications - Diagnosis - Enzymology
 
dc.subject.meshRespiration, Artificial
 
dc.subject.meshRespiratory Insufficiency - Diagnosis - Enzymology - Etiology
 
dc.titleSevere congenital myasthenia gravis of the presynaptic type with choline acetyltransferase mutation in a Chinese infant with respiratory failure
 
dc.typeArticle
 
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Author Affiliations
  1. Prince of Wales Hospital Hong Kong