Year: 2025
Type: article
Study design: Case Report
Abstract: BACKGROUND: Cerebral cavernous malformations (CCMs) are vascular malformations occurring sporadically, or secondary to a familial cavernoma syndrome. While focal seizures are commonly associated with CCMs, epileptic spasms are rare. METHODS: We report four patients with epileptic spasms associated with CCM. All four patients were female and developed epileptic spasms aged 5 months, 17 months, 9 years, and 10 years. RESULTS: The 17-month-old presented with raised intracranial pressure aged 4 months, with a magnetic resonance imaging demonstrating a giant left hemisphere CCM in the context of a familial cavernoma syndrome. She developed epileptic spasms aged 17 months with developmental regression and hypsarrhythmia on electroencephalogram. The 10-year-old presented with epileptic spasms following several years of focal seizures associated with a solitary CCM in the left precuneus. The five-month-old presented with infantile epileptic spasms syndrome with a modified hypsarrhythmia and a CCM in the left temporal lobe in the context of a familial cavernoma syndrome. The nine-year-old presented with focal seizures followed by a period of altered awareness associated with periodic complexes on electroencephalogram associated with a CCM in the right precuneus. All patients underwent epilepsy surgery to remove their CCM and surrounding hemosiderin-stained cortex. Epileptic spasms resolved following resective surgery in all, although one child continued to have focal seizures. CONCLUSION: These cases demonstrate that CCM may rarely present with epileptic spasms. Factors potentially predisposing to the development of epileptic spasms, rather than focal epilepsies include large lesion volume, lesion location within the precuneus, and the presence of a familial cavernoma syndrome.
Source: Pediatric Neurology
Authors: Jia Yi Tonkin, Lauren Taylor, Emma Macdonald-Laurs
Language: English
Subfield: Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
Estimated APC paid: $3,520
OpenAlex ID: W4417444027