Clinical features, course, and treatment in four cases of hereditary brachial plexus neuropathy
| Patient | Age (y) at 1st attack/ sex | Age (y) at biopsy | No of episodes | Clinical features of current attack | CSF | HNPP gene testing | CT/MRI plexus | Family members affected | Treatment of biopsied attack | Treatment response |
|---|---|---|---|---|---|---|---|---|---|---|
| *Patient's father's history, examination, and nerve conduction/EMG studies (performed by us) consistent with recurrent brachial plexopathy. | ||||||||||
| BPN, brachial plexus neuropathy; CSF, cerebrospinal fluid; CT, computed tomography; d, day; HNPP, hereditary brachial plexus neuropathy; IV, intravenous; L, left; m, month; MP, methyl prednisolone; MRI, magnetic resonance imaging; N, normal; ND, not done; R, right; y, year; | ||||||||||
| 1 | 19/F | 28 | 3 | Painful weakness bilaterally; BPN postpartum | N | Neg | Neg | 17 | IV MP tapered over 1.5 months | Dramatic pain reduction; worsened pain and weakness with steroid taper |
| 2 | 10/M | 46 | 4 | Painful weakness L>R; BPN | Protein↑ (60 mg/dl) | Neg | ND | 7 | 1 g IV MP ×3d; then 60 mg prednisone ×1m; then 50 mg ×1m; then tapered off | Dramatic pain reduction; worsened pain and possible weakness with steroid taper |
| 3 | 18/F | 21 | 2 | Painful weakness bilaterally; BPN postpartum | N | ND | ND | 11 | Prednisone 60 mg/d tapered over 3 weeks | Uncertain |
| 4 | 9M | 28 | 3 | Painful weakness R; BPN | N | Neg | Neg | 1* | Prednisone 80 mg/d tapered over 4 weeks | Uncertain |