Teaching NeuroImage: Familial Cerebral Cavernous Malformation in <i>PDCD10</i> Genotype

A 53-year-old man presented with a 3-month history of transient facial tingling and left arm stiffness lasting seconds.MRI demonstrated multiple cerebral cavernomas (Figure).CT angiography revealed no associated developmental venous anomalies (DVAs) or other vascular pathologies.Genetic testing revealed a heterozygous loss-of-function sequence variant in PDCD10 (NM_145,860.1;c.103C > T; p.Arg35*) confirming autosomal dominant familial cerebral cavernous malformation (FCCM) type 3. FCCMs are more commonly caused by KRIT1 (53%-65%) or MGC4607 (20%) than PDCD10 (10%-16%) mutations (Table ). 1 Carriers may be asymptomatic or experience seizures, intracranial hemorrhage (ICH), or headaches. 2FCCM type 3 is typically first symptomatic in childhood and has a higher likelihood of ICH compared with other subtypes. 2The risk of ICH is believed to be higher in women and those