Abstracts

Rationale: Managing familial cerebral cavernous malformation syndrome (FCCM) comes with many challenges (1). This is due to the increased risk and occurrence of multiple cavernomas, intracranial bleeding, and neurological complications in FCCM, with mutations like KRIT1 (2). This case underscores the challenges involved in treating FCCM, including genetic factors, surgical decision-making, and the psychological effects on young adults.

Methods: A 21-year-old gentleman with no significant past medical history presented after a seizure episode described as involuntary left arm movements, right facial jerking, and loss of consciousness for about a minute. After the episode, the patient had post-ictal confusion and a severe headache. Thorough workup and management were done, including brain imaging, EEG, Genetic analysis, neurosurgical evaluation, and surgery.

Results: MRI brain revealed a left frontal cavernoma and multiple smaller cavernomas (Figure 1). The left frontal cavernoma was surgically resected, and seizures were well controlled with Levetiracetam. A follow-up MRI after two years, performed to investigate acute headache, revealed a new small hemorrhage in the left posterior cingulate region (Figure 2), which necessitated a second surgery to remove the symptomatic cavernoma. Genetic testing revealed a pathogenic KRIT1 c.1267C >T (p.Arg423) mutation. The patient experienced occasional headaches and light-headedness, which were managed conservatively. The patient remained seizure-free, and an ambulatory EEG ruled out any epileptic activity.

Conclusions: For the best long-term outcomes, timely surgical intervention, pharmacological treatment, and careful follow-up are warranted in FCCM patients. Multidisciplinary support from many specialties like neurology, neurosurgery, genetics, and psychology is required to meet their intricate needs.

Funding: The authors have no external funding to report.