Title
Lambert-Eaton myasthenic syndrome in a 13-year-old girl with Xp11.22-p11.23 duplication Lambert-Eaton myasthenic syndrome in a 13-year-old girl with Xp11.22-p11.23 duplication
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Publication type
article
Publication
London ,
Subject
Human medicine
Source (journal)
European journal of paediatric neurology. - London
Volume/pages
18(2014) :3 , p. 439-443
ISSN
1090-3798
ISI
000336695500030
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
Abstract
Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune disease of the presynaptic neuromuscular junction, typically occurring in adults as a paraneoplastic syndrome. Only rare cases have been reported in childhood. In most childhood cases, malignancies have not been detected but a propensity to autoimmune disease was noticed. Nevertheless, little is known about genetic factors that may contribute to the susceptibility of an individual to develop LEMS. We report on a 13-year-old girl, known with the Xp11.22-p11.23 duplication syndrome, who presented with severe non-paraneoplastic LEMS. The potential role of this micro-duplication syndrome in the development of LEMS is explored. Previous literature review of twelve Xp11.2 duplication syndrome patients showed that three of them suffered from various autoimmune diseases. The common duplicated region in those three patients and the presented case comprises 12 disease-associated genes including the FOXP3 (Forkhead Box P3) and WAS (Wiskott-Aldrich syndrome) gene, both implicated in immune function. However, it is unclear whether increased gene dosage of one or both of these genes can cause susceptibility to autoimmune diseases. In conclusion, the presented case emphasizes that autoimmune disease is a recurrent feature of the Xp11.2 duplication syndrome, which should be considered in the follow-up of these patients. The exact mechanism underlying this autoimmune propensity remains to be elucidated. (C) 2014 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
E-info
https://repository.uantwerpen.be/docman/iruaauth/173c2f/e277717.pdf
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000336695500030&DestLinkType=RelatedRecords&DestApp=ALL_WOS&UsrCustomerID=ef845e08c439e550330acc77c7d2d848
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000336695500030&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=ef845e08c439e550330acc77c7d2d848
Handle