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
2011 Impact Factor: 2.656
2011 SCImago Journal Rankings: 0.153
DOIhttp://dx.doi.org/10.1159/000155612
ISI Accession Number IDWOS:000260682900012
ReferencesReferences in Scopus
DC Field
Value
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
2011 Impact Factor: 2.656
2011 SCImago Journal Rankings: 0.153
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
Author Affiliations
  1. Prince of Wales Hospital Hong Kong