Table. Comparator Pediatric Cases of Optic Neuritis and Myelitis Meeting Criteria for NMOSD.
| Variable | Study case | All cases (n = 10), No./total No. (%) |
|---|---|---|
| Age at onset, y | 13 | Mean (range), 9.2 (4-15) |
| Sex, male/female | 0/1 | 6/4 |
| Prior DD? | No | 0/10 (0) |
| ON and spinal involvement | Yes | 10/10 (100) |
| LETM on neuroimaging | Yes | 9/9 (100) |
| Non-ON or C-spine WM lesions on neuroimaging | No | 2/6 (17)a |
| Seizure | No | 2/10 (20)b |
| CSF pleocytosis | No | 0/6 |
| OCB present and/or elevated IgG index | No | 2/3 (66) |
| Elevated lactate (serum or CSF) | No (serum + CSF) | 8/10 (80) |
| Autoantibody positivity (AQP4/MOG) | Negative (AQP4 and MOG) | 0/3 |
| Dermatologic disease | Yes (dermatitis) | 4/10 (40) With dermatitis; 2/10 (20) with alopecia and dermatitis |
| BEA level, nmol/min/mL | <0.10 | Mean (range), 0.16 (0-0.58) |
| BTD gene abnormalities | Homozygous c.1330G>C (p.A444H) ; heterozygous c.1207T>G (p.F403V) ; heterozygous c.814T>G (p.T272G) |
8/10 (80) Patients tested; Girard et al1: c.643C>T (pL215F) and c.1612C>T (p.R538C); Raha et al2: homozygous c.133C>T (p.H447Y); Wolf et al, Pt 14: homozygous c.1369G>A (p.V457M); Wolf et al, Pt 24: heterozygous c.643C>T (p.L215F) and heterozygous c.1186T>C (p.S366P); Wolf et al, Pt 34: homozygous c.1612C>T (p.R538C); Wolf et al, Pt 44: G98:d7i3 c.643C>T (p.L215F); Yilmaz et al5: c.98-104delinsTCC p.V457M |
| Improvement with immune therapy? | No | 2/5 (40)c |
| Worsening with immune therapy? | Yes; decline associated with corticosteroids | 2/5 (40); Decline with corticosteroids and/or plasmapheresis |
| Relapses not receiving biotin | No | 8/10 (80)d |
| Relapses receiving biotin | No | 0/10 |
| Clinical improvement receiving biotin | Yese | 10/10 (100)e |
Abbreviations: AQP4, aquaporin-4 antibody; BEA, biotin enzyme activity; CC, corpus callosum; CSF, cerebrospinal fluid; C-spine, cervical spine; DD, developmental delay; IVIg, intravenous immunoglobulin; LETM, longitudinally extensive transverse myelitis, defined as TM extending >3 vertebral bodies in length; MOG, myelin oligodendrocyte glycoprotein; NA, not applicable; NMOSD, neuromyelitis optica spectrum disorder; OCB, oligoclonal bands; ON, optic nerve; SP, septum pellucidum; WM, white matter.
CC, fornix, medulla, medial thalamusy, and SP reported.
All prior to onset of ON/LETM.
Corticosteroids and/or IVIg.
Of the 8 patients with relapse, 7 had ON/LETM phenotype and 1 had LETM-only phenotype.
The patient in this study reported improved visual acuity with residual ON atrophy. All other cases experienced improved vision and paraparesis; residual ON atrophy reported in 2 of 10 (20).