Cavernous angiomatosis of the central nervous system: usefulness of screening the family.
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.
Dellemijn
P L
PL
Department of Neurology, St Lucasziekenhuis, Amsterdam, The Netherlands.
Vanneste
J A
JA
D000328:Adult; D017668:Age of Onset; D001921:Brain / Q000000981:diagnostic imaging; D001932:Brain Neoplasms / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D002528:Cerebellar Neoplasms / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics; D002543:Cerebral Hemorrhage / Q000175:diagnosis / Q000000981:diagnostic imaging; D005190:Family; D005260:Female; D005451:Fluorescein Angiography; D006392:Hemangioma, Cavernous / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012164:Retinal Diseases / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics; D015173:Supratentorial Neoplasms / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics; D014057:Tomography, X-Ray Computed