This article requires a subscription to view the full text. If you have a subscription you may use the login form below to view the article. Access to this article can also be purchased.
Cerebral cavernous malformations (CCMs) are heterogeneous vascular malformations that may cause headaches, seizures, focal neurologic deficits, stroke, and death. With an incidence of 0.1 to 0.5%, they constitute 10 to 20% of all CNS vascular malformations.1 Heterozygous loss-of-function mutations have been identified in KRIT1 (CCM1),2 MGC4607 (CCM2),3 and PDCD10 (CCM3).4 We describe a patient with multiple CCMs presenting with a hemorrhagic thoracic cord cavernous malformation and an unreported CCM1 mutation.
Case report.
Proband.
A man age 29 with a history of multiple CCMs, including an acutely hemorrhagic left cerebellar CCM resected in 1999, reported a 7-day history of progressive bilateral lower extremity weakness and numbness. He was unable to ambulate on the day of admission, with paresis of his right leg, severe left leg motor impairment, and numbness in his thighs and groin. He reported a painful, distended bladder without urination in over 36 hours.
Physical exam demonstrated nearly complete plegia in the right lower extremity. The left lower extremity was 3/5 proximally and 2/5 distally. Sensory exam revealed a dense, multimodality level …
AAN Members
We have changed the login procedure to improve access between AAN.com and the Neurology journals. If you are experiencing issues, please log out of AAN.com and clear history and cookies. (For instructions by browser, please click the instruction pages below). After clearing, choose preferred Journal and select login for AAN Members. You will be redirected to a login page where you can log in with your AAN ID number and password. When you are returned to the Journal, your name should appear at the top right of the page.
AAN Non-Member Subscribers
Purchase access
Letters: Rapid online correspondence
REQUIREMENTS
You must ensure that your Disclosures have been updated within the previous six months. Please go to our Submission Site to add or update your Disclosure information.
Your co-authors must send a completed Publishing Agreement Form to Neurology Staff (not necessary for the lead/corresponding author as the form below will suffice) before you upload your comment.
If you are responding to a comment that was written about an article you originally authored:
You (and co-authors) do not need to fill out forms or check disclosures as author forms are still valid
and apply to letter.
Submission specifications:
- Submissions must be < 200 words with < 5 references. Reference 1 must be the article on which you are commenting.
- Submissions should not have more than 5 authors. (Exception: original author replies can include all original authors of the article)
- Submit only on articles published within 6 months of issue date.
- Do not be redundant. Read any comments already posted on the article prior to submission.
- Submitted comments are subject to editing and editor review prior to posting.
