TY - JOUR
T1 - Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks
T2 - A prospective study
AU - Reinstein, Eyal
AU - Pariani, Mitchel
AU - Bannykh, Serguei
AU - Rimoin, David L.
AU - Schievink, Wouter I.
N1 - Funding Information:
Dr Rimoin appreciated support from the Steven Spielberg Pediatric Research Center, the NIH/NICHD Program Project Grant (HD36657), the Medical Genetics NIH/NIGMS Training Program Grant (5-T32-GM08243), and the Cedars-Sinai General Clinical Research Center Grant (M01-RR00425) for samples collected under CSMC IRB Protocols 0463 and 4232.
PY - 2013/4
Y1 - 2013/4
N2 - We aimed to assess the frequency of connective tissue abnormalities among patients with cerebrospinal fluid (CSF) leaks in a prospective study using a large cohort of patients. We enrolled a consecutive group of 50 patients, referred for consultation because of CSF leak. All patients have been carefully examined for the presence of connective tissue abnormalities, and based on findings, patients underwent genetic testing. Ancillary diagnostic studies included echocardiography, eye exam, and histopathological examinations of skin and dura biopsies in selected patients. We identified nine patients with heritable connective tissue disorders, including Marfan syndrome, Ehlers-Danlos syndrome and other unclassified forms. In seven patients, spontaneous CSF leak was the first noted manifestation of the genetic disorder. We conclude that spontaneous CSF leaks are associated with a spectrum of connective tissue abnormalities and may be the first noted clinical presentation of the genetic disorder. We propose that there is a clinical basis for considering spontaneous CSF leak as a clinical manifestation of heritable connective tissue disorders, and we suggest that patients with CSF leaks should be screened for connective tissue and vascular abnormalities.
AB - We aimed to assess the frequency of connective tissue abnormalities among patients with cerebrospinal fluid (CSF) leaks in a prospective study using a large cohort of patients. We enrolled a consecutive group of 50 patients, referred for consultation because of CSF leak. All patients have been carefully examined for the presence of connective tissue abnormalities, and based on findings, patients underwent genetic testing. Ancillary diagnostic studies included echocardiography, eye exam, and histopathological examinations of skin and dura biopsies in selected patients. We identified nine patients with heritable connective tissue disorders, including Marfan syndrome, Ehlers-Danlos syndrome and other unclassified forms. In seven patients, spontaneous CSF leak was the first noted manifestation of the genetic disorder. We conclude that spontaneous CSF leaks are associated with a spectrum of connective tissue abnormalities and may be the first noted clinical presentation of the genetic disorder. We propose that there is a clinical basis for considering spontaneous CSF leak as a clinical manifestation of heritable connective tissue disorders, and we suggest that patients with CSF leaks should be screened for connective tissue and vascular abnormalities.
KW - hereditary disorders of connective tissue
KW - positional headache screening
KW - spontaneous cerebrospinal fluid leak
UR - http://www.scopus.com/inward/record.url?scp=84875055752&partnerID=8YFLogxK
U2 - 10.1038/ejhg.2012.191
DO - 10.1038/ejhg.2012.191
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C2 - 22929030
AN - SCOPUS:84875055752
VL - 21
SP - 386
EP - 390
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
SN - 1018-4813
IS - 4
ER -