NIMG-10. EARLY PRESENTATION OF FAMILIAL CEREBRAL CAVERNOUS MALFORMATION (FCCM) IN AN INFANT - A CASE REPORT

Abstract

OBJECTIVE: To describe presentation of FCCM in an infant. BACKGROUND: Cerebral cavernous malformations (CCMs) are rare low-flow vascular malformations; hemorrhage can result in significant morbidity and mortality. Familial cerebral cavernous malformations (FCCM) are defined as the occurrence of CCMs in at least two family members and/or the presence of multiple CCMs and/or the presence of a disease causing mutation in one of the three genes in which mutations are known to cause familial CCM. FCCM typically manifests between 20 to 30 years of age, but clinical manifestations can occur at any age. CASE DESCRIPTION: Our patient is a 6 month old Caucasian baby boy who was the product of full term cesarean section and meeting milestones. He presented to the emergency room with right eye deviation and right hemiparesis over three days. Maternal history was significant for multiple intra-cerebral cavernous angiomas diagnosed at 30 years of age. RESULTS: CT head revealed a hyperdense lesion over the pontine medullary junction. Subsequent MRI brain w/wo contrast revealed multiple cavernomas. There was surrounding edema and hemorrhage in a cavernoma over left anterior medulla which was responsible for his symptoms. MRA head was normal. Genetic work-up is pending for the patient, however, mother has CCM1 mutation. Although surgery has been considered efficient treatment option for CCMs, it was deferred for our patient given location of lesion and age of this patient. DISCUSSION: In the case report we describe the first infant to present with FCCM. Majority of individuals present with CCMs are symptomatic between the second and fifth decades. In one study, 9% of individuals were symptomatic before age ten years, 62%-72% between ages 10 and 40 years, and 19% after age 40 years. Functional outcome is mostly determined by the location of CCM lesions, with brainstem and basal ganglia lesions having a worse prognosis.