Early symptomatic onset of patients with PDCD10-related cerebral cavernous malformations
Cerebral cavernous malformations (CCM) are vascular anomalies of the central nervous system that primarily manifest in adolescence and adulthood, but can also present in infants and children. CCM can be sporadic or familial, with pathogenic variants in PDCD10 associated with one rare subtype of CCM known as CCM3. To add to the limited knowledge surrounding disease presentation of CCM3, we performed a retrospective analysis of patients via our patient-facing rare-disease platform. Here, we report that symptoms may present even earlier than previous research suggests. This poster was presented at the National Society of Genetic Counselors (NSGC) 40th Annual Conference in September 2021 and won the Best Poster Award (out of 300+ posters).