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 |