Value of gradient-echo magnetic resonance imaging in the diagnosis of familial cerebral cavernous malformation.
BACKGROUND
Cerebral cavernous malformations (CCMs) are congenital vascular anomalies that can cause seizures, intracranial hemorrhages, focal neurological deficits, and migrainelike headaches. Magnetic resonance (MR) imaging has substantially facilitated diagnosis of CCM. It is now widely accepted that familial clustering with an autosomal dominant inheritance pattern should be suspected in cases of multiple lesions.


OBJECTIVE
To determine by MR imaging the penetrance of cavernous malformations in a 3-generation family that included 5 members with typical clinical signs and diagnostic findings.


METHODS
All family members underwent routine MR T1-weighted and T2-weighted spin-echo sequences in addition to MR T2-weighted gradient-echo sequences.


RESULTS
Four family members had been symptomatic with either brainstem bleeding, headaches, or focal neurological signs. The gradient-echo sequences yielded a dramatically higher sensitivity with regard to lesion number and distribution. As in previous reports of familial CCM, an increase in lesion number with increasing age, changes in lesion characteristics, de novo occurrence in serial MR imaging over time, and the phenomenon of anticipation could be confirmed in this family.


CONCLUSIONS
Magnetic resonance gradient-echo sequences should be considered the method of choice for diagnosis of familial CCM.
Lehnhardt
Fritz-Georg
FG
Department of Neurology, University of Cologne, Cologne, Germany.
von Smekal
Ulrich
U
Rückriem
Benedikt
B
Stenzel
Werner
W
Neveling
Michael
M
Heiss
Wolf-Dieter
WD
Jacobs
Andreas H
AH
D000328:Adult; D000368:Aged; D001808:Blood Vessels / Q000002:abnormalities / Q000473:pathology / Q000503:physiopathology; D001921:Brain / Q000002:abnormalities* / Q000098:blood supply / Q000473:pathology*; D016543:Central Nervous System Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D002648:Child; D002985:Clinical Protocols; D018450:Disease Progression; D006261:Headache / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D020786:Hemangioma, Cavernous, Central Nervous System / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D020300:Intracranial Hemorrhages / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D011237:Predictive Value of Tests; D011379:Prognosis; D012640:Seizures / Q000209:etiology / Q000473:pathology / Q000503:physiopathology