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Article: Peripheral neuropathy - A novel finding in dyskeratosis congenita

TitlePeripheral neuropathy - A novel finding in dyskeratosis congenita
Authors
Issue Date2005
PublisherWB Saunders Co Ltd. The Journal's web site is located at http://www.elsevier.com/locate/ejpn
Citation
European Journal Of Paediatric Neurology, 2005, v. 9 n. 2, p. 85-89 How to Cite?
AbstractWe report the case of a 3.5-year-old boy who presented with truncal ataxia, microcephaly and delayed global development in infancy. Hypoplasia of cerebellum and corpus callosum and delayed myelination were found on brain MRI. Failure to thrive, sparse hairs and dystrophic nails became evident at the age of 2 years. He subsequently developed bleeding tendency, thrombocytopenia and hypocellularity on bone marrow examination leading to a diagnosis of dyskeratosis congenita. Impaired pain perception with slowing of nerve conduction velocities was demonstrated, suggesting a mild peripheral neuropathy. To the best of our knowledge, peripheral neuropathy has never been reported as a feature of the congenital form of dyskeratosis congenita. © 2005 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/170340
ISSN
2015 Impact Factor: 1.923
2015 SCImago Journal Rankings: 0.959
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorIp, Pen_US
dc.contributor.authorKnight, Ren_US
dc.contributor.authorDokal, Ien_US
dc.contributor.authorManzur, AYen_US
dc.contributor.authorMuntoni, Fen_US
dc.date.accessioned2012-10-30T06:07:37Z-
dc.date.available2012-10-30T06:07:37Z-
dc.date.issued2005en_US
dc.identifier.citationEuropean Journal Of Paediatric Neurology, 2005, v. 9 n. 2, p. 85-89en_US
dc.identifier.issn1090-3798en_US
dc.identifier.urihttp://hdl.handle.net/10722/170340-
dc.description.abstractWe report the case of a 3.5-year-old boy who presented with truncal ataxia, microcephaly and delayed global development in infancy. Hypoplasia of cerebellum and corpus callosum and delayed myelination were found on brain MRI. Failure to thrive, sparse hairs and dystrophic nails became evident at the age of 2 years. He subsequently developed bleeding tendency, thrombocytopenia and hypocellularity on bone marrow examination leading to a diagnosis of dyskeratosis congenita. Impaired pain perception with slowing of nerve conduction velocities was demonstrated, suggesting a mild peripheral neuropathy. To the best of our knowledge, peripheral neuropathy has never been reported as a feature of the congenital form of dyskeratosis congenita. © 2005 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.en_US
dc.languageengen_US
dc.publisherWB Saunders Co Ltd. The Journal's web site is located at http://www.elsevier.com/locate/ejpnen_US
dc.relation.ispartofEuropean Journal of Paediatric Neurologyen_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshDemyelinating Diseases - Diagnosis - Etiology - Physiopathologyen_US
dc.subject.meshDyskeratosis Congenita - Complicationsen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshNeural Conduction - Physiologyen_US
dc.subject.meshPeripheral Nervous System Diseases - Diagnosis - Etiology - Physiopathologyen_US
dc.titlePeripheral neuropathy - A novel finding in dyskeratosis congenitaen_US
dc.typeArticleen_US
dc.identifier.emailIp, P:patricip@hku.hken_US
dc.identifier.authorityIp, P=rp01337en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1016/j.ejpn.2005.01.007en_US
dc.identifier.pmid15843075-
dc.identifier.scopuseid_2-s2.0-17144380033en_US
dc.identifier.hkuros98110-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-17144380033&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume9en_US
dc.identifier.issue2en_US
dc.identifier.spage85en_US
dc.identifier.epage89en_US
dc.identifier.isiWOS:000229054200006-
dc.publisher.placeUnited Kingdomen_US
dc.identifier.scopusauthoridIp, P=7003622681en_US
dc.identifier.scopusauthoridKnight, R=8356641100en_US
dc.identifier.scopusauthoridDokal, I=7003881972en_US
dc.identifier.scopusauthoridManzur, AY=7004508063en_US
dc.identifier.scopusauthoridMuntoni, F=7102038246en_US

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