Collaborative collection of patients

Case No.AgeSexClinical Signs and SymptomsSpinal AVM/AVFMutation
16F2 CMs at birth, new lesions appeared later, most on the extremities and <1 cm; lower extremity weakness (nonambulatory), neurogenic bladder at 4 yrAVM at conus medullaris (level L1) treated with n-BCA embolizationDe novo, c.1386_1387insCTp.Ile463LeufsX21
26MMultifocal CMs at birthAVF supplied by R vertebral artery and thyrocervical trunkFamilial, c.1453 + 1delG, splicing altered
36MCM on R plantar foot at birth, macular lesions appeared with time along with motor ticsAVF at level of C7-T1, treated with combined endovascular/surgical approachDe novo, c.2329G>Tp.Glu777X
434MMultifocal CMs at birth, acute sensorimotor deficits at 23 yrSpinal AVM at L5-S1 treated with n-BCA embolizationFamilial, c.1717C>Tp.Gln573X
536FMultifocal CMs at birth, flaccid paraplegia of lower extremities, and neurogenic bladder at 16 monthsAVM at conus medullaris (L2 level), treated surgicallyFamilial, c.1666_1698 + 15 del, splicing altered