Cerebral cavernous malformation in a cohort of paediatric patients: Prognostic factors for neurological outcomes

Abstract

Objective: To define the clinical and neuroradiological features in a paediatric cohort of patients with cerebral cavernous malformation (CCM); to assess the disease's evolution and to identify prognostic factors for neurological outcome and rebleeding. Methods: Retrospective study conducted in all subjects with CCM (years 2006–2015). The followings were analyzed: family history of CCM, presentation (acute, chronic, incidental finding), clinical characteristics at onset and during follow-up. All available brain MRI and electroencephalograms were reviewed. Three outcome scores (EGOS-Ped, ECHESS and Class of Engel) were applied at last follow-up. Results: 19 patients (11 females) with CCM were recruited, with a mean age at diagnosis of 7.2 ± 4.6 years. Familiar and multiple CCM were found in 21% of cases. The most common presentation was acute onset (58%), with seizures (42%), focal neurological deficit (26%) or headache (11%). The CCM lesions were mainly single (74%) (average diameter of 22.4 mm) and supratentorial (68%). MRI identified bleeding at diagnosis in 63% of cases. 18 of 19 patients underwent neurosurgery: complete resection was possible in 50% of cases. After surgery, 42% of the cases had complete remission of symptoms, the remaining 58% showed clinical deterioration due to surgery complications or re-bleeding from the residual lesion (26%). At follow-up after surgery 40% of patients was seizure-free, 68% had an unfavourable neurological outcome. The clinical parameters at onset that significantly correlated with poor outcome at follow-up were: female gender, infratentorial lesions, diameter of the lesion, focal neurological deficits, acute/haemorrhagic presentation at diagnosis, focal seizures with secondary generalization, lack of complete control of seizures within 2 months from the onset of antiepileptic drug, incomplete removal of the CCM lesion. Conclusions: Our results show that CCM showed an aggressive clinical phenotype in paediatric patients. We identified several prognostic factors for neurological outcomes.