TY - JOUR
AU - Bede, Peter
AB - 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.2 FCCM type 3 is typically first symptomatic in childhood and has a higher likelihood of ICH compared with other subtypes.2 The risk of ICH is believed to be higher in women and those with brainstem cavernomas, but propranolol may reduce the incidence of clinical events.3 Cerebral angiography is useful to identify co-existent DVAs, which are more often seen in sporadic than familial cases.2
TI - Teaching NeuroImage: Familial Cerebral Cavernous Malformation in PDCD10 Genotype
JO - Neurology
DO - 10.1212/wnl.0000000000209799
DA - 2024-08-22
UR - https://www.deepdyve.com/lp/wolters-kluwer-health/teaching-neuroimage-familial-cerebral-cavernous-malformation-in-pdcd10-VNfS7SShTp
VL - 103
IS - 6
DP - DeepDyve
ER -