Two patients with severe yet different neurological symptoms were referred to UCSF for emergent neurosurgical evaluation. Both were found to have previously undiagnosed cerebral cavernous malformations (CCMs), but each patient’s treatment was unique.
“Using optimal imaging protocols, we were able to identify this rare condition in these patients and determine if bleeding occurred,” said neurointensivist Nerissa U. Ko, MD, co-director of the UCSF CCM Center of Excellence. “We specialize in this condition and balance the risks and benefits to provide the best treatment options for each individual.”
Medical surveillance recommended for postpartum woman
Ten weeks after giving birth to her first child, a 28-year-old woman developed a sudden, severe headache, blurred vision and a facial droop. She was transferred to UCSF from her local emergency department. MRI revealed a previously undiagnosed CCM. The patient’s symptoms resolved, and she was discharged with urgent follow-up provided at the UCSF CCM Center of Excellence.
“During her follow-up visit, we used our state-of-the-art imaging techniques to get a high-resolution look at her vessel walls,” Ko said. “After consulting with our neuroradiology team, we determined that her CCM was not bleeding and she didn’t require urgent neurosurgery.”
Ko counseled the patient on managing her headaches. As a nursing mother, she wanted to avoid taking pain medications. “We discussed lifestyle changes – regulating her exercise routine, managing her diet and hydration, and making sure she gets enough sleep,” Ko said. “If she ever needs more aggressive options, our UCSF Headache Center specialists have a broad armamentarium of non-pharmacological prevention and management techniques.”
Genetic counseling at UCSF
Because CCM can be hereditary, the patient received genetic screening and counseling with Joseph Shieh, MD, PhD, medical geneticist and member of the UCSF Institute for Human Genetics.
“There are three known genetic mutations for CCM,” Ko said. “She was tested for those and was found to not have a genetic form of this condition. This was very reassuring for her as a new mother.”
The patient was also counseled about future pregnancy planning. “We work closely with our maternal-fetal medicine group here at UCSF to come up with comprehensive plans for our patients to safely have children in the future,” Ko said.
Ko scheduled follow-up MRI scans for the patient within six months. “She’s unlikely to be at high risk for severe bleeding,” Ko said. “Her blood pressure is normal, and she has no other risk factors. The patient feels very supported and able to take advantage of all the UCSF specialists to help her understand and manage her new diagnosis.”
Surgery resolves a patient’s seizures
A 30-year-old woman was experiencing tingling on one side of her body and inattention spells. Eventually, she had a generalized seizure and went to her local emergency department. She was transferred to UCSF, where imaging revealed a CCM that was not bleeding. She was monitored in the UCSF Neurointensive Care Unit by Adib A. Abla, MD, vascular and endovascular neurosurgeon, chief of vascular neurosurgery and co-director of the UCSF CCM Center of Excellence. He determined the patient did not require surgery at that time. Her seizures were managed medically, and she was discharged home on seizure medication.
At a follow-up visit with Ko, the patient reported difficulty adjusting to the seizure medication. She was very tired and unable to return to normal activities. Ko adjusted the patient’s medications over the next several weeks, but even after trying three different medications, she could not tolerate the optimum dose without experiencing side effects and was still having mild seizures.
Ko referred the patient back to Abla at the UCSF Cerebrovascular Neurosurgery Clinic. EEGs indicated that her seizures were originating from the CCM. The patient decided to undergo surgical resection of her CCM in a combined approach with Abla and the surgical epilepsy team.
The surgery was a success, and the patient was discharged home two days later. She is currently on a low dose of seizure medication, which she is tolerating well. She has returned to her normal activities and is seizure-free.
“This case shows that if you have a good surgical target, then that path may be best advised for some patients with CCMs who are experiencing seizures,” Ko said. “It’s a wonderful success story and an example of how our multidisciplinary team comes together to help patients navigate treatment options.”
Awake brain mapping and intraoperative electrocorticography
At UCSF, these types of complex surgical cases are managed jointly by Abla and neurosurgeon Edward F. Chang, MD, chair of the Department of Neurological Surgery, who specializes in epilepsy surgery and brain mapping.
“We have a unique approach to treating patients with cavernous malformation and epilepsy,” Abla said. “Dr. Chang and I work together using awake mapping so we can safely remove the lesion and irritated adjacent epilepsy tissue while protecting important neurological functions.
“When we’re removing a lesion adjacent to the motor or speech cortex, we want to preserve function, so we need to know how close the cavernous malformation is to the sensitive area of the brain,” he continued. “We can only do that with real-time feedback on language or motor deficit. This increases the safety profile of the surgery.”
During the procedure, the surgical team performs electrocorticography (ECoG) to record seizure activity. “When cavernous malformations bleed, the iron in the blood causes seizures,” Abla said. “There’s a staining of tissue around a cavernous malformation called hemosiderin, which literally means ‘staining of iron.’” The team removes as much of the hemosiderin as safely possible, using awake mapping and ECoG to guide the excision.
“This method improves the clinical outcome for the patient, and it’s only available at a handful of centers worldwide,” Abla said.
Community of discovery
Helen Kim, MPH, PhD, professor of anesthesia and investigator with the UCSF Center for Cerebrovascular Research, published a breakthrough study in 2017 identifying roles for innate immune signaling and the microbiome in the development of CCM. “Dr. Helen Kim is one of the premier researchers in this area,” Ko said. “We are very fortunate that she is part of our UCSF CCM team and that we have this active, NIH-funded research program on-site.”
In 2018, the Alliance to Cure Cavernous Malformation named UCSF a CCM center of excellence in recognition of the high-quality, interdisciplinary care provided for patients with sporadic or familial CCM. “Our partnership with the alliance, a nationally recognized patient advocacy group, is very helpful,” Ko said. “They provide a lot of support to patients and keep physicians up to date on the latest treatments and guidelines.”
At UCSF, CCM clinical trials are being conducted in addition to ongoing work on the genetics of CCM. “A lot of our patients are interested in helping add to the knowledge of this condition,” Ko said. “They’re connected to state-of-the art research and any new therapies that may come of it. They appreciate being part of the larger community of discovery.”
Neurology and neurosurgery research and treatment take place within the UCSF Weill Institute for Neurosciences.
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