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Prospective follow-up of 33 asymptomatic patients with familial cerebral cavernous malformations

From the Laboratoire de Génétique des Maladies Vasculaires (Drs. Labauge and Laberge), INSERM EPI 99-21, Faculté de Médecine Lariboisière, Paris; Department of Neurology (Dr. Labauge), CHU de Montpellier-Nîmes, Hôpital Caremeau, Nîmes; Service de Radiologie Adultes Bretonneau (Dr. Brunereau), Tours; and Service de Neurochirurgie (Dr. Houtteville), Caen, France.

Address correspondence and reprint requests to Dr. P. Labauge, Laboratoire de Génétique des Maladies Vasculaires, INSERM EPI 99-21, Faculté de Médecine Lariboisière, 10 Avenue de Verdun 75010, Paris, France; e-mail: labauge{at}hotmail.com

Background:— Cerebral cavernous malformation (CCM) is one of the most common vascular malformations of the CNS. Familial CCM are increasingly diagnosed, but little is known about their natural history, especially in asymptomatic patients.

Objective:— To determine the degree of spontaneous evolution of familial CCM in a population of 33 symptom-free patients.

Methods:— During a previous national survey, the authors analyzed the clinical and MRI features of 173 patients from 57 unrelated French families, including 73 asymptomatic subjects. Of these 73 subjects, 33 prospectively underwent two serial clinical and MRI examinations. Cerebral MRI systematically included spin echo and gradient echo sequences. Occurrence of clinical symptoms and MRI changes of CCM, namely, hemorrhage, change in signal intensity, change in size, and appearance of new lesions, were recorded by means of comparison of the first and last MRI examinations.

Results:— The 33 patients (234 CCM, mean 7.1 lesions/subject, range 1 to 85 lesions/subject) were followed during a mean period of 2.1 years (range 0.5 to 4.5 years). Two patients became symptomatic: One presented with brainstem hemorrhage and one with partial seizure. Comparison of the two serial MR images found changes in 15 patients (46%): 1) Bleeding occurred in three type II lesions (1.3%) in three patients (9.1%); 2) 30 new lesions appeared in 10 patients (30.3%); 3) change in signal intensity was observed in one lesion (0.4%) in one patient (3%); and 4) increase in size was observed in four lesions (1.7%) in three patients (9.1%).

Conclusions:— This prospective study confirms the dynamic nature of CCM. The appearance of new lesions in 30% of patients has to be retained as a hallmark of the familial condition.

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