Cavernous angiomatosis of the central nervous system: usefulness of screening the family

Abstract

A 23‐year‐old woman presented with cerebellar hemorrhage from a cavernous angioma (CA). A history of spinal hemorrhage and a supratentorial calcified lesion on CT and MRI suggested cavernous angiomatosis of the CNS. Familial investigation in 20 relatives revealed 4 additional patients with symptomatic CA and one person with asymptomatic CA. In the symptomatic patients, CA had not been recognized as the cause of their neurologic symptoms prior to our investigation. The number of CA lesions in asymptomatic relatives was low. This study shows that, when a patient with cavernous angiomatosis of the CNS is encountered, systematic clinical and MRI investigations in other family members with a history or symptoms of neurologic disorder should be carried out.

Management and prognosis of symptomatic patients with intramedullary spinal cord cavernoma

“…1,6,9,22 Multiple cavernomas were documented in 25% and 14.2% of the patients in 2 previously published case series. 28,35 In our case series, however, we found no evidence of multiple lesions.…”

Incidence, clinical presentation and imaging findings of cavernous malformations of the CNS. A twenty-year experience

“…The prevalence of symptomatic cases in a study with hereditary cases amounted to 54% of the affected members of the family at the time of the investigation [6,38]. According to current literature, a familial form of CM should be suspected in cases with multiple CMs and/or a family history with epilepsy, strokes, focal neurological deficits and signs of intracranial bleeding in first degree relatives younger than 40 years [39]. In the current study, an additional 9.9% of the cohort could have some type of hereditary form based on the aforementioned family history criteria.…”