Linked Life Data

9817424

Source:http://linkedlifedata.com/resource/pubmed/id/9817424

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1998-12-4
pubmed:abstractText
Syringomyelia is a rare, mainly sporadic disease of the spinal cord, which is associated with 80% of cases in which a Chiari Type I malformation is also present. A mendelian transmission of syringomyelia (autosomal dominant or recessive) has been proposed in approximately 2% of reported cases. The association of syringomyelia with hereditary diseases (Noonan's syndrome, phacomatoses) has been mentioned frequently in the literature. The authors report the presence of a Chiari Type I malformation accompanied by syringomyelia in two unrelated patients affected by a familial Type II blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). The first patient was a 35-year-old woman who presented with a right C-8 root paresia. The second case involved a 20-year-old man who complained of cervical radicular pain. Both belong to families in which BPES was segregated in an autosomal dominant modality, but other family members had no known neurological symptoms. To the authors' knowledge, such a combination has never been described. Perhaps the possible involvement of a genetic component in some cases of Chiari Type I-associated syringomyelia will someday be debated.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0022-3085
pubmed:author
pubmed:issnType
Print
pubmed:volume
89
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
835-8
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1998
pubmed:articleTitle
Chiari Type I malformation and syringomyelia in unrelated patients with blepharophimosis. Report of two cases.
pubmed:affiliation
Service de Neurochirurgie, Hôpital Pasteur, Nice, France. paquis@unice.fr
pubmed:publicationType
Journal Article, Case Reports