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Article: Paroxysmal extreme pain disorder (previously familial rectal pain syndrome)

TitleParoxysmal extreme pain disorder (previously familial rectal pain syndrome)
Authors
Issue Date2007
PublisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.neurology.org
Citation
Neurology, 2007, v. 69 n. 6, p. 586-595 How to Cite?
AbstractOBJECTIVE: To describe the clinical phenotype of paroxysmal extreme pain disorder (previously called familial rectal pain syndrome), an autosomal dominant condition recently shown to be a sodium channelopathy involving SCN9A. METHODS: An international consortium of clinicians, scientists, and affected families was formed. Clinical details of all accessible families worldwide were collected, including age at onset, features of attacks, problems between attacks, investigational results, treatments tried, and evolution over time. A validated pain questionnaire was completed by 14 affected individuals. RESULTS: Seventy-seven individuals from 15 families were identified. The onset of the disorder is in the neonatal period or infancy and persists throughout life. Autonomic manifestations predominate initially, with skin flushing in all and harlequin color change and tonic attacks in most. Dramatic syncopes with bradycardia and sometimes asystole are common. Later, the disorder is characterized by attacks of excruciating deep burning pain often in the rectal, ocular, or jaw areas, but also diffuse. Attacks are triggered by factors such as defecation, cold wind, eating, and emotion. Carbamazepine is effective in almost all who try it, but the response is often incomplete. CONCLUSIONS: Paroxysmal extreme pain disorder is a highly distinctive sodium channelopathy with incompletely carbamazepine-sensitive bouts of pain and sympathetic nervous system dysfunction. It is most likely to be misdiagnosed as epilepsy and, particularly in infancy, as hyperekplexia and reflex anoxic seizures. ©2007AAN Enterprises, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/143518
ISSN
2015 Impact Factor: 8.166
2015 SCImago Journal Rankings: 3.691
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorFertleman, CRen_HK
dc.contributor.authorFerrie, CDen_HK
dc.contributor.authorAicardi, Jen_HK
dc.contributor.authorBednarek, NAFen_HK
dc.contributor.authorEegOlofsson, Oen_HK
dc.contributor.authorElmslie, FVen_HK
dc.contributor.authorGriesemer, DAen_HK
dc.contributor.authorGoutières, Fen_HK
dc.contributor.authorKirkpatrick, Men_HK
dc.contributor.authorMalmros, INOen_HK
dc.contributor.authorPollitzer, Men_HK
dc.contributor.authorRossiter, Men_HK
dc.contributor.authorRouletPerez, Een_HK
dc.contributor.authorSchubert, Ren_HK
dc.contributor.authorSmith, VVen_HK
dc.contributor.authorTestard, Hen_HK
dc.contributor.authorWong, Ven_HK
dc.contributor.authorStephenson, JBPen_HK
dc.date.accessioned2011-12-12T03:51:27Z-
dc.date.available2011-12-12T03:51:27Z-
dc.date.issued2007en_HK
dc.identifier.citationNeurology, 2007, v. 69 n. 6, p. 586-595en_HK
dc.identifier.issn0028-3878en_HK
dc.identifier.urihttp://hdl.handle.net/10722/143518-
dc.description.abstractOBJECTIVE: To describe the clinical phenotype of paroxysmal extreme pain disorder (previously called familial rectal pain syndrome), an autosomal dominant condition recently shown to be a sodium channelopathy involving SCN9A. METHODS: An international consortium of clinicians, scientists, and affected families was formed. Clinical details of all accessible families worldwide were collected, including age at onset, features of attacks, problems between attacks, investigational results, treatments tried, and evolution over time. A validated pain questionnaire was completed by 14 affected individuals. RESULTS: Seventy-seven individuals from 15 families were identified. The onset of the disorder is in the neonatal period or infancy and persists throughout life. Autonomic manifestations predominate initially, with skin flushing in all and harlequin color change and tonic attacks in most. Dramatic syncopes with bradycardia and sometimes asystole are common. Later, the disorder is characterized by attacks of excruciating deep burning pain often in the rectal, ocular, or jaw areas, but also diffuse. Attacks are triggered by factors such as defecation, cold wind, eating, and emotion. Carbamazepine is effective in almost all who try it, but the response is often incomplete. CONCLUSIONS: Paroxysmal extreme pain disorder is a highly distinctive sodium channelopathy with incompletely carbamazepine-sensitive bouts of pain and sympathetic nervous system dysfunction. It is most likely to be misdiagnosed as epilepsy and, particularly in infancy, as hyperekplexia and reflex anoxic seizures. ©2007AAN Enterprises, Inc.en_HK
dc.languageengen_US
dc.publisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.neurology.orgen_HK
dc.relation.ispartofNeurologyen_HK
dc.subject.meshAge of Onseten_US
dc.subject.meshAnalgesics/therapeutic useen_US
dc.subject.meshAnticonvulsants/therapeutic useen_US
dc.subject.meshBradycardia/etiologyen_US
dc.subject.meshDiagnosis, Differentialen_US
dc.subject.meshElectroencephalographyen_US
dc.subject.meshEpilepsy/diagnosisen_US
dc.subject.meshEyeen_US
dc.subject.meshFemaleen_US
dc.subject.meshFetal Diseases/genetics/physiopathologyen_US
dc.subject.meshFlushing/etiologyen_US
dc.subject.meshGanglia, Spinal/physiopathologyen_US
dc.subject.meshGenes, Dominanten_US
dc.subject.meshHeart Arrest/etiologyen_US
dc.subject.meshHumansen_US
dc.subject.meshInfant, Newbornen_US
dc.subject.meshIon Channel Gating/geneticsen_US
dc.subject.meshJawen_US
dc.subject.meshMaleen_US
dc.subject.meshNeuralgia/diagnosis/epidemiology/genetics/*physiopathologyen_US
dc.subject.meshNociceptors/physiologyen_US
dc.subject.meshPedigreeen_US
dc.subject.meshPhenotypeen_US
dc.subject.meshPhysical Stimulationen_US
dc.subject.meshRectumen_US
dc.subject.meshSeizures/etiologyen_US
dc.subject.meshSleep Apnea, Central/etiologyen_US
dc.subject.meshSodium/metabolismen_US
dc.subject.meshSodium Channels/deficiency/geneticsen_US
dc.subject.meshSyndromeen_US
dc.titleParoxysmal extreme pain disorder (previously familial rectal pain syndrome)en_HK
dc.typeArticleen_HK
dc.identifier.emailWong, V:vcnwong@hku.hken_HK
dc.identifier.authorityWong, V=rp00334en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1212/01.wnl.0000268065.16865.5fen_HK
dc.identifier.pmid17679678en_US
dc.identifier.scopuseid_2-s2.0-34548446384en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-34548446384&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume69en_HK
dc.identifier.issue6en_HK
dc.identifier.spage586en_HK
dc.identifier.epage595en_HK
dc.identifier.isiWOS:000248573000012-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridFertleman, CR=6507487426en_HK
dc.identifier.scopusauthoridFerrie, CD=7003543411en_HK
dc.identifier.scopusauthoridAicardi, J=7102117630en_HK
dc.identifier.scopusauthoridBednarek, NAF=6602112368en_HK
dc.identifier.scopusauthoridEegOlofsson, O=7005503565en_HK
dc.identifier.scopusauthoridElmslie, FV=6603639206en_HK
dc.identifier.scopusauthoridGriesemer, DA=6603611493en_HK
dc.identifier.scopusauthoridGoutières, F=7006500061en_HK
dc.identifier.scopusauthoridKirkpatrick, M=7103091525en_HK
dc.identifier.scopusauthoridMalmros, INO=6505931341en_HK
dc.identifier.scopusauthoridPollitzer, M=55298195400en_HK
dc.identifier.scopusauthoridRossiter, M=7005231961en_HK
dc.identifier.scopusauthoridRouletPerez, E=25321027600en_HK
dc.identifier.scopusauthoridSchubert, R=7202490278en_HK
dc.identifier.scopusauthoridSmith, VV=7401798925en_HK
dc.identifier.scopusauthoridTestard, H=13907085400en_HK
dc.identifier.scopusauthoridWong, V=7202525632en_HK
dc.identifier.scopusauthoridStephenson, JBP=7401715417en_HK

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