Table of Contents
Washington University Experience | VASCULAR | Cavernous Angioma | 12A0 Case 12 History
Case 12 History ---- The patient was a 71 year old woman with a past medical history significant for an hereditary vascular disorder, Alzheimer’s dementia, coronary artery disease, hypertension, hyperlipidemia, a gait disorder, depression, obstructive sleep apnea, diverticulitis and rheumatoid arthritis. Relevant to the patient’s vascular disorder, she experienced a left middle cerebellar peduncle hemorrhage in 2007. An MRI at the time showed a ~1.2 cm acute hemorrhage and some peripheral susceptibility effect consistent with hemoglobin degradation products, raising suspicion of an associated small cavernous hemangioma; other features suggested the possibility of multiple small cavernomas in other locations within the brain, as well as chronic small vessel ischemia. Subsequent MRI studies in 2009 and 2010, showed similar findings, but with increased numbers of lesions. Her family history is significant for three of five daughters who are similarly affected (at least one with a cavernoma of the cervical spine) and multiple other family members (mother, grandmother, brother) with hemorrhagic complications. Clinically, she was considered to have hereditary hemorrhagic telangiectasia (HHT), though no telangiectasias were found on her skin or mucosa. More recently, the patient had an MI, had stents placed and passed away in a nursing home. ---- Regardless, any diagnostic uncertainty of which syndrome (HHT or CCM) might be resolved definitively on the basis of genetic testing had it been available at that time. Assays to identify mutations in the genes responsible for CCM (called CCM1, CCM2 and CCM3) are now being performed in reference laboratories, as are tests for mutations in the genes most commonly responsible for HHT (ENG and ACVRL1).
