Document Detail


Radicular dysfunction due to spinal deformities in Marfan syndrome at older age: three case reports.
MedLine Citation:
PMID:  19879983     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Marfan syndrome is a inherited connective tissue disorder due to mutations in fibrillin-1. It presents with cardiovascular, ocular, skeletal, pulmonary and dural signs and symptoms. Some of the symptoms of later onset are those associated with scoliosis and dural ectasia. This is the enlargement of the neural canal especially in the lower lumbar and sacral region and occurs in over 90% of Marfan patients. We here report three patients with lumbar and/or sacral radiculopathy due to (kypho)scoliosis and dural ectasia with spinal meningeal cysts. The pain, muscle weakness, muscle atrophy, and sensory disturbances illustrate the severe neurological complications which may occur in Marfan syndrome, especially at later age. Awareness of these complications and development of management protocols is essential since life expectancy of Marfan patients has increased. Marfan syndrome might gradually become recognized as an inherited connective tissue disorder with potentially severe neurological complications during ageing.
Authors:
N C Voermans; A J Hosman; N van Alfen; R H Bartels; M de Kleuver; J W op den Akker; B G van Engelen
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2009-10-30
Journal Detail:
Title:  European journal of medical genetics     Volume:  53     ISSN:  1878-0849     ISO Abbreviation:  Eur J Med Genet     Publication Date:    2010 Jan-Feb
Date Detail:
Created Date:  2010-02-04     Completed Date:  2010-04-16     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101247089     Medline TA:  Eur J Med Genet     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  35-9     Citation Subset:  IM    
Copyright Information:
Copyright (c) 2009 Elsevier Masson SAS. All rights reserved.
Affiliation:
Donders Centre for Neuroscience, Department of Neurology, Radboud University Nijmegen Medical Centre, The Netherlands. n.voermans@neuro.umcn.nl
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MeSH Terms
Descriptor/Qualifier:
Aging*
Dura Mater / physiopathology
Eye / physiopathology
Female
Humans
Lumbar Vertebrae* / physiopathology,  radiography
Male
Marfan Syndrome* / genetics,  physiopathology
Middle Aged
Sacrococcygeal Region* / physiopathology,  radiography
Scoliosis / physiopathology

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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