Related Experiment Video
Updated: Sep 9, 2025
Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model
Published on: September 4, 2017
Familial Cerebral Cavernous Malformations : A Clinical Series and Literature Review
Huseyin Dogu1, Ali Osman Mucuoglu1, Abdulkerim Gokoglu2
1Department of Neurosurgery, Istanbul Atlas University Faculty of Medicine, Istanbul, Turkey.
Insights
Familial cerebral cavernous malformation (FCCM) management benefits from genetic testing. Surgery effectively treats symptomatic FCCM cases, while carriers require regular monitoring.
Area of Science:
- Neurosurgery
- Medical Genetics
- Neurology
Background:
- Familial cerebral cavernous malformation (FCCM) is an inherited vascular disorder.
- It involves abnormal, slow-flow venous capillaries in the brain.
- FCCM presents with diverse clinical, radiological, and genetic findings.
Purpose of the Study:
- To review clinical, radiological, pathological, and genetic findings in seven FCCM relatives.
- To discuss treatment strategies based on individual presentations.
- To evaluate outcomes of surgical intervention.
Main Methods:
- Case series of seven blood relatives diagnosed with FCCM.
- Detailed clinical evaluation, radiological imaging, histopathology, and genetic testing.
- Functional outcomes assessed using the Karnofsky performance scale (KPS).
Main Results:
- Five patients were symptomatic (hemorrhagic Type I lesions), two were asymptomatic carriers (non-hemorrhagic Type 4 lesions).
- One symptomatic patient had a CCM1 gene mutation.
- Surgical resection in three symptomatic cases resulted in no neurological deficit (KPS 100) and no residual lesions; no seizures post-surgery.
Conclusions:
- Molecular genetic testing aids FCCM diagnosis and management.
- Surgery is effective for symptomatic FCCM with neurological deficits or epilepsy.
- Regular monitoring is recommended for all FCCM patients and carriers.
Objective:
Familial cerebral cavernous malformation (FCCM) is a genetically inherited condition involving the collection of abnormal slow-flow venous capillaries with no cerebral parenchyma in between. In this case series, we review the clinical, radiological, pathological, and genetic findings of seven blood relatives diagnosed with FCCM and discuss their treatment in light of the different presentations.
Methods:
The patients with FCCMs were assessed in our neurosurgery clinic between April 2016 and October 2024. All patients underwent detailed clinical evaluation, radiological imaging, histopathological examination, and genetic testing. Functional outcomes were evaluated using the Karnofsky performance scale (KPS).
Results:
Five of the seven patients were symptomatic, while the remaining two were asymptomatic carriers. On radiological examination, hemorrhagic type I lesions were detected in symptomatic cases, whereas the asymptomatic carriers had non-hemorrhagic type 4 lesions. Genetic testing revealed a heterozygous pathogenic mutation in the CCM1 gene in one of the symptomatic patients. The three symptomatic cases underwent surgery for complete resection of the lesions; no additional neurological deficit or residual lesion was detected postoperatively (postoperative KPS score, 100). Histopathological examination revealed benign cavernous angioma in all cases. Over the postoperative follow-up, no seizures were detected in patients who underwent surgery due to refractory epilepsy.
Conclusion:
Advances in molecular genetic testing have allowed for prompt diagnosis and timely management of patients with FCCMs. Surgical treatment is an effective option in symptomatic cases with progressive neurological deficits and refractory epilepsy. Regular neurological monitoring and radiological assessment are recommended in symptomatic cases and asymptomatic carriers.
