Table 2.
Clinical characteristics of the patients with neuromyelitis optica spectrum disorders.
| Onset age/Gender | Clinical presentation | Core features | MRI finding | Laboratory data | Autoimmune disease | |
|---|---|---|---|---|---|---|
| Family cases | ||||||
| I | 39/F | Right side limbs progressive weakness and numbness, left side trunk and limb sensation loss and gait disturbance | Acute myelitis | Low C to T8 level LETM, Hyperintense T2WI at left parietal periventricle white matter, corpus callosum and cerebellum Ill-defined bright signal on T2WI in cord C to T spine |
AQP4 Ab(+) | – |
| II | 22/F | Nausea, hiccups and vomiting Numbness over both palms, abdomen and both lower limbs |
Acute myelitis Area postrema syndrome |
High T2WI signal lesion noted over medulla C3-6 levels myelitis |
AQP4 Ab(+) | – |
| Sporadic cases | ||||||
| 1 | 46/F | Sudden onset left eye blurred vision Nausea |
Optic neuritis Area postrema syndrome Acute brainstem syndrome |
Medullar-C1 junction hyperintense lesion Abnormal signal change over bilateral optic nerves, much more severe on the left side |
AQP4 Ab(+) | – |
| 2 | 38/F | Acute onset left eye blurred vision Bilateral lower limb tightness and numbness; back tightness |
Optic neuritis Acute myelitis |
T2 to 5 level LETM | AQP4 Ab(+) | – |
| 3 | 27/F | Acute onset of right blurred vision Episodic transient bilateral limbs weakness and numbness Nausea and poor appetite Frequent hiccup |
Optic neuritis Acute myelitis Area postrema syndrome Acute brainstem syndrome |
Focal hyperintensity at the lower medulla Right optic nerve with T2WI hyperintense signal change C4-5 and C7 level spinal cord |
AQP4 Ab(+) | – |
| 4 | 62/F | Sudden onset left eye blurred vision Posterior nuchal stiffness Dry mouth and dry eyes |
Optic neuritis | High T2WI signal change over C5-6 spinal cord | AQP4 Ab(+) Anti-SSA/Ro(+) |
– |
| 5 | 58/F | Progressive right eye blurred vision Progressive paresthesia from bilateral upper limbs to legs; both lower limbs weakness Dry mouth and dry eyes |
Optic neuritis Acute myelitis |
Multiple intramedullary hyperintense changes in lower cervical and thorax | AQP4 Ab(+) Anti-SSA/Ro(+) Anti-SSB/La(+) Unstimulated whole saliva flow rate test:(+) |
PSS |
| 6 | 36/F | Numbness of both hands; both legs weakness and right leg soreness Nausea Acute onset of binocular diplopia |
Acute myelitis Area postrema syndrome Acute brainstem syndrome |
C4-7, T5-6 high T2WI signal lesion Right posterior pons lesion Hyperintense changes in bilateral optic nerves |
AQP4 Ab(+) | – |
| 7 | 38/F | Leg numbness and tightness with heavy sensation Right visual field defect Gait disturbance |
Optic neuritis Acute myelitis Area postrema syndrome |
High T2WI signal lesion over C3-5, C7-T8, corpus callosum and bilateral F–P regions | AQP4 Ab(+) | – |
| 8 | 54/F | Both eyes visual acuity declined Both legs numbness and mild right side weakness Acute onset of nausea, vomiting |
Optic neuritis Acute myelitis Area postrema syndrome |
Hyperintensity in optic and medulla, focal enhancement right optic chiasm left periventricle and upper C spine to T4 | AQP4 Ab(+) | – |
| 9a | 22/F | Blurred vision in the left eye Bilateral lower limb ascending numbness from the feet to above the knee |
Optic neuritis Acute myelitis |
Cervical and thoracic spinal cords LETM High signal lesion in corpus callosum |
AQP4 Ab(+) | – |
| 10 | 43/F | Persistent hiccup and nausea Acute onset of double vision Left limb numbness and hyperesthesia Unsteady gait |
Area postrema syndrome Acute brainstem syndrome |
Enhanced lesion over C4-7 and medulla to upper C-spine | AQP4 Ab(+) | – |
| 11 | 43/F | Beside left forearm numbness with weakness Hiccup, nausea and vomiting Progressive dysarthria and dysphagia |
Acute myelitis Area postrema syndrome Acute brainstem syndrome |
Central spinal canal lesion, left side dominant Hyperintense lesion over dorsal medulla |
AQP4 Ab(+) ENA screening(+) HCV |
– |
| 12a | 32/F | Acute onset both eyes blurred vision Left side weakness and numbness |
Optic neuritis Acute myelitis; |
Periventricular regions and right cervical spinal cord lesion | AQP4 Ab(+) | – |
| 13 | 31/F | Progressive left eye blurred vision Bilateral distal limbs numbness Bilateral leg weakness |
Optic neuritis Acute myelitis |
Increased perioptic nerve hyperintense Small periventricular lesion |
AQP4 Ab(+) | – |
| 14 | 48/F | Blurred vision in the right eye Bilateral lower limb weakness and numbness Hiccup |
Optic neuritis Acute myelitis Area postrema syndrome |
T5-8 LETM High T2WI signal lesion noted over bilateral pons, basal ganglia, periventricular, and F–P regions |
AQP4 Ab(+) | – |
| 15 | 56/F | Blurred vision Pain and numbness mainly localized at the right side and below T10 level Bilateral lower limb weakness |
Optic neuritis Acute myelitis; |
Multiple focal lesions over T4-5, high T2WI signal lesion at dorsal and central part of spinal cord | AQP4 Ab(+) | – |
| 16 | 45/F | Right hand weakness and numbness Acute onset of double vision and bilateral ptosis Insidious onset of changes in consciousness and quadriparesis |
Optic neuritis Acute myelitis Area postrema syndrome |
T2WI high signal: right temporal horn ependymal lining of periventricular region, optic tract, midbrain and the periaqueductal area Intramedullary lesion C2-5 |
AQP4 Ab(+) Anti-SSA/Ro(+) Schirmer's test: 0 mm/5 min on both eyes Unstimulated whole saliva flow rate test(+) |
PSS |
| 17 | 37/F | Blurred vision in the left eye Numbness of both lower legs Nausea, vomiting then hiccup |
Optic neuritis Acute myelitis Area postrema syndrome |
High T2WI signal change in medulla C1-3 and T4-9, high T2WI signal lesion over periventricular area |
AQP4 Ab(+) Anti-SSA/Ro(+) |
– |
| 18 | 39/F | Deterioration of vision in the right eye Both legs numbness, ascending type then unsteady gait Dry eyes and skin |
Optic neuritis Acute myelitis |
High T2WI signal lesion over C4-T1 and periventricular area | AQP4 Ab(+) Anti-SSA/Ro, SSB/La(+) Schirmer's 0 mm/5 min on both eyes |
PSS |
| 19 | 27/F | Recurrent visual loss in both eyes Acute onset of ascending numbness and left lower limb weakness with progression around the T5-6 region |
Optic neuritis Acute myelitis Acute brainstem syndrome |
Increased cord signal over T2-T7/8 levels | AQP4 Ab(+) | – |
a
2 sporadic cases identified by Sanger sequencing with positive finding of CD33 frameshift mutation. Abbreviations: C: C spine; T: T spine; T2WI: T2 weighted image; AQP4 Ab: antibodies to aquaporin-4; LETM: longitudinally extensive transverse myelitis; PSS: primary Sjögren's syndrome; F–P region: frontoparietal region; Unstimulated whole saliva flow rate test positive: <0.1 ml/min, case 5: 0.57 ml/15 min, case 16: <0.1 ml/min; ENA screening: extractable nuclear antigen; anti-SSA/Ro: Anti-Sjögren's-syndrome-related antigen A antibody; anti-SSB/La: Anti-Sjögren's-syndrome-related antigen B antibody; Schirmer's test cut off: ≤5 mm/5 min.