Ehlers-Danlos Syndrome with complete agenetii of the corpui callosum and quadricuspid aortic valve

Antonio Federico, Katrin Plewnia, Maria Teresa Dotti, Marco Macucci, Nicola De Stefane, Eustacchio Agricola, Sergio Mondmo

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Ehlers-Danlos Syndrome (EDS) is a generalised connective tissue disorder characterised by hyperelasticity and hyperfiagility of skin, hypermobility of joints, abnormal scar healing and bruisability. By clinical, biochemical and genetic means, at least 10 subtypes of EDS are currently recognised. Only few cases with additional intemistic and neurological manifestations have been reported (Cupoetal. l981,Thomaletal. 19%). We describe a 16 year-old patient affected from EDS type H, complete agenesis of the corpus callosum evidenced by NMR and qudricuspid aortic valve demonstrated by two-dimensional echocardiography. Agenesis of the corpus callosum is a frequent congenital abnormality: it is often associated with gastrointestinal, genito-urinary or cardiovascular malformations. Association of agenesis of corpus callosum and qudricuspid aortic valve has never been described The association of the previously described abnormalities in EDS has never been reported before: it may be merely coincidental, but the report of other cases suggests a new variant with neurological and intemistic malformations.

Original languageEnglish
Pages (from-to)61
Number of pages1
JournalItalian Journal of Neurological Sciences
Issue number4
Publication statusPublished - 1997

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology


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