Extreme de novo appearance of cerebral cavernous malformations: case report

Cerebral cavernous malformations (CCMs) are found in 0.1 to 0.5% of the population. With the advent of magnetic resonance imaging, they have been increasingly recognized, suggesting a higher prevalence than previously reported. The development of de novo lesions is well documented, with a reported rate of 0.2 to 0.4 lesions per patient per year. We present a patient who developed 70 new lesions over a 38-month period (approximately 22 per yr).

A 32-year-old woman was admitted to the obstetric service with a diagnosis of viral gastroenteritis. She became acutely unresponsive, and a computed tomographic scan of the head revealed an acute left frontal intraparenchymal hematoma with significant edema and midline shift. She rapidly deteriorated, developing a fixed, dilated left pupil and agonal respirations.

She was taken to the operating room for an emergent left frontal craniotomy and decompression with evacuation of the hematoma. A magnetic resonance imaging scan revealed multiple cavernous malformations, and histopathology was consistent with cavernous malformation. Genetic testing revealed a CCM1 mutation.

This patient demonstrates the truly dynamic nature of CCMs and the increased incidence of new lesions in the setting of CCM1 mutation. This case is remarkable not only for the unprecedented rate of lesion formation (approximately 22 per yr), but also because of the nearly unilateral distribution of the lesions.