Clinical presentation, natural history, and outcomes for infantile intracranial cavernous malformations: case series and systematic review of the literature.

Abstract

Intracranial cavernous malformations (CMs) are rare vascular malformations of the central nervous system in children. Infantile patients, being a developmentally vulnerable age group, pose a special challenge for management of these lesions. We pooled data from infantile patients diagnosed at our institution and individual cases published in the literature to provide input towards therapeutic decision-making. A systematic search of PubMed, MEDLINE, Embase, and Scopus was performed in accordance with PRISMA guidelines to identify all reported cases of intracranial CMs in the literature for infantile patients aged ≤ 2years. In addition, cases from our institution diagnosed between 2010 and 2020 were also included. Individual cases were pooled and analyzed for clinical presentation, natural history, and outcomes from conservative and surgical management. A total of 36 cases were included, of which 32 were identified from the literature. Median age at presentation was 14months (range: 2days to 24months) months; 53% (n = 19) were females. Most cavernomas (64%, 23/36) were supratentorial, while 30% (n = 11) were located in brainstem and 5.5% (n = 2) in the cerebellum. With the exception of one patient, all cases were reported to be symptomatic; seizures (n = 15/31, 48.3%) and motor deficits (n = 13/31, 42%) were the most common symptom modalities. A total of 13 patients were managed conservatively upon initial presentation. No symptomatic hemorrhages were observed during 26 total person-years of follow-up. A total of 77% (28/36) underwent surgery; either upfront (23/28, 82%) at initial presentation or following conservative management. Among 12 patients who had preoperative seizures, 11/12 (91.6%) achieved seizure freedom post-resection. Among 7 patients who presented with hemiparesis preoperatively, 5 (71%) demonstrated some improvement, while 1 remained unchanged, and another patient with a brainstem cavernous malformation had worsening of motor function postoperatively. Postoperative recurrence was noted in 3 cases (3/27, 11%). Annual risk of repeat hemorrhage may be low for infantile patients with intracranial cavernous malformations; however, better follow-up rates and higher number of cases are needed to make a definitive assertion. Surgical resection may be associated with high rates of epilepsy cure and provide improvement in neurological function in a select number of cases.