Literature DB >> 23234825

Type IV Ehlers-Danlos syndrome presenting as recurrent, bilateral carotid dissections.

Richard James Booth Ellis1, Maqsud Salehin, Rui Zhou, Mohammad Somauroo.   

Abstract

Vascular (type IV) Ehlers-Danlos is an autosomally dominant inherited condition that results from a defect in type III collagen production. It can result in vascular complications such as rupture and dissection, as well as gastrointestinal and uterine rupture. We present the case of a 17-year-old girl who presented with transient neurological signs and pulsatile tinnitus secondary to carotid dissection 1 year after suffering from a stroke caused also by a carotid dissection on the contralateral side. We managed acutely and investigated for an underlying connective tissue disorder. Genetic analysis of COL 3A1 was performed and a heterozygous missense, non-conservative mutation of c.970G>A was detected. This replication mutation has previously been associated with type IV Ehlers-Danlos syndrome.

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Year:  2012        PMID: 23234825      PMCID: PMC4544302          DOI: 10.1136/bcr-2012-007435

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  8 in total

Review 1.  Vascular Ehlers-Danlos syndrome: pathophysiology, diagnosis, and prevention and treatment of its complications.

Authors:  Natalia Beridze; William H Frishman
Journal:  Cardiol Rev       Date:  2012 Jan-Feb       Impact factor: 2.644

Review 2.  Genetic determinants of juvenile stroke.

Authors:  Alessandro Pezzini
Journal:  Thromb Res       Date:  2011-11-21       Impact factor: 3.944

Review 3.  Collagens: molecular biology, diseases, and potentials for therapy.

Authors:  D J Prockop; K I Kivirikko
Journal:  Annu Rev Biochem       Date:  1995       Impact factor: 23.643

4.  Multiple strokes and bilateral carotid dissections: a fulminant case of newly diagnosed Ehlers-Danlos syndrome type IV.

Authors:  C Dohle; J M Baehring
Journal:  J Neurol Sci       Date:  2012-05-03       Impact factor: 3.181

Review 5.  Successful pregnancy outcome in Ehlers-Danlos syndrome, vascular type.

Authors:  Maria Palmquist; John G Pappas; Boris Petrikovsky; Karin Blakemore; Daniel Roshan
Journal:  J Matern Fetal Neonatal Med       Date:  2009-10

6.  [Ehlers Danlos type IV syndrome presenting with simultaneous dissection of both internal carotid and both vertebral arteries].

Authors:  K Mondon; B de Toffol; G Georgesco; J-F Cassarini; M-C Machet; J-P Cottier; B Arbeille; A Autret
Journal:  Rev Neurol (Paris)       Date:  2004-04       Impact factor: 2.607

7.  Cerebrovascular Involvement in Ehlers-Danlos Syndrome.

Authors:  Wouter I. Schievink
Journal:  Curr Treat Options Cardiovasc Med       Date:  2004-06

Review 8.  Ehlers-Danlos syndrome type IV.

Authors:  Dominique P Germain
Journal:  Orphanet J Rare Dis       Date:  2007-07-19       Impact factor: 4.123

  8 in total
  2 in total

Review 1.  Neurovascular manifestations of connective-tissue diseases: A review.

Authors:  Sarasa T Kim; Waleed Brinjikji; Giuseppe Lanzino; David F Kallmes
Journal:  Interv Neuroradiol       Date:  2016-08-10       Impact factor: 1.610

Review 2.  Neurological manifestations of Ehlers-Danlos syndrome(s): A review.

Authors:  Marco Castori; Nicol C Voermans
Journal:  Iran J Neurol       Date:  2014-10-06
  2 in total

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