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Collaborative collection of patients
Case No. Age Sex Clinical Signs and Symptoms Spinal AVM/AVF Mutation
1 6 F 2 CMs at birth, new lesions appeared later, most on the extremities and <1 cm; lower extremity weakness (nonambulatory), neurogenic bladder at 4 yr AVM at conus medullaris (level L1) treated with n-BCA embolization De novo, c.1386_1387insCTp.Ile463LeufsX21
2 6 M Multifocal CMs at birth AVF supplied by R vertebral artery and thyrocervical trunk Familial, c.1453 + 1delG, splicing altered
3 6 M CM on R plantar foot at birth, macular lesions appeared with time along with motor tics AVF at level of C7-T1, treated with combined endovascular/surgical approach De novo, c.2329G>Tp.Glu777X
4 34 M Multifocal CMs at birth, acute sensorimotor deficits at 23 yr Spinal AVM at L5-S1 treated with n-BCA embolization Familial, c.1717C>Tp.Gln573X
5 36 F Multifocal CMs at birth, flaccid paraplegia of lower extremities, and neurogenic bladder at 16 months AVM at conus medullaris (L2 level), treated surgically Familial, c.1666_1698 + 15 del, splicing altered