Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: a prospective study.

ABSTRACT: 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

SUBMITTER: Reinstein E 

PROVIDER: S-EPMC3598315 | biostudies-literature | 2013 Apr

REPOSITORIES: biostudies-literature