Neuroimaging abnormalities in patients with Cowden syndrome: Retrospective single-center study.

ABSTRACT:

Background

We retrospectively reviewed the neuroimaging findings of patients with Cowden syndrome and determined their frequency in a single cohort.

Methods

Electronic medical records were queried from January 1999 to January 2017 to identify patients who fit the clinical criteria for diagnosis of Cowden syndrome with or without a documented PTEN mutation. Patients with brain MRI examinations were then identified.

Results

We retrospectively identified 44 patients with Cowden syndrome, 22 of whom had neuroimaging for review. Eleven (50%) had Lhermitte-Duclos disease, 4 (18.1%) had meningiomas, 13 (59.1%) had at least one developmental venous anomaly, 3 had cavernous malformations, 2 had evidence of dural arteriovenous fistula, 7 had increased white matter signal

SUBMITTER: Dhamija R 

PROVIDER: S-EPMC6075984 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature