PMC9081932_01
MRI findings, fundoscopic findings, and visual fields of the presented case. (A) Fundoscopic examination on the first hospitalization showed bilateral papilledema. (B) Fundoscopic examination on the second hospitalization revealed bilateral optic atrophy, which was probably caused by bilateral papilledema. (C,D) Visual fields on the first and second hospitalizations showed bilateral enlargement of the physiological blind spot without any other visual field defect. (E-G) Brain MRI exhibited several imaging signs of intracranial hypertension, including the empty-sella sign (E), perioptic subarachnoid space distension (F,G), optic nerve tortuosity (G), and posterior globe flattening (F,G). (H) Brain MRI with contrast showed no enhancement of the optic nerve. (I,J) Post-contrast 3D GRE T1-weighted imaging and contrast-enhanced magnetic resonance venography (CE-MRV) showed filling defects of the right transverse-sigmoid sinus. (K,L) Brain MRI and CE-MRV after 3 months of anticoagulation showed partial recanalization of the right transverse-sigmoid sinus.
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Neurological examination showed neck stiffness and bilateral optic disc swelling (ODS) (Figure 1A). Bilateral enlargement of the physiological blind spot was found in the visual field examinations (Figure 1C). Brain MRI with contrast showed no enhancement of the optic nerve (Figure 1H); however, the patient exhibited several imaging signs of intracranial hypertension (IH), which included the empty-sella sign (Figure 1E), perioptic subarachnoid space distension (Figures 1F,G), optic nerve tortuosity (Figure 1G), and posterior globe flattening (Figures 1F,G). Contrast MRI also showed filling defects in the right transverse-sigmoid sinus (Figure 1I), which were confirmed by contrast-enhanced magnetic resonance venography (CE-MRV) (Figure 1J). Two months later, a repeat MRI showed partial recanalization of the right transverse-sigmoid sinus (Figures 1K,L), and the CSF opening pressure was 200 mm H2O. Fundoscopic and visual field examination on the 12th day showed bilateral optic atrophy and enlarged blind spot, which were considered a result of prolonged IH rather than acute IH (Figures 1B,D).
MRI and CT findings and anti-aquaporin-4 antibody (AQP4-IgG) array of the presented case. (A) Whole-exome sequencing revealed a mutation in JAK2-V617F. (B) CT venography of the second hospitalization showed no filling defects of the cerebral venous sinus. (C-H) Spinal MRI demonstrated T2-weighted imaging abnormalities in the medulla as well as extensive spinal cord involvement extending from C1 to the conus. Spinal MRI with contrast showed mild enhancement in the cervical and thoracic spinal cord. (I,J) Follow-up MRI showed prominent regression of the hyperintense lesion, which included the medulla and spinal cord. (K) The serum titer of AQP4-IgG using a cell-based assay was 1:1,000 at the time of neuromyelitis optica spectrum disorder diagnosis. (L) The patient was negative for AQP4-IgG at the 1-year follow-up.
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The patient underwent whole-exome sequencing, which revealed a mutation in JAK2-V617F (Figure 2A). However, the lack of filling defects of the cerebral venous system in CT venography ruled out the recurrence of CVST on the 13th day (Figure 2B). Spinal and brain MRI with contrast was undertaken on the 17th day, which showed an extensive signal abnormality that extended longitudinally from the medulla to the entire spinal cord, with slight edema and gadolinium enhancement (Figures 2C-H). The cell-based AQP4-IgG assay of serum and CSF were positive at 1:1,000 and 1:100 (Figure 2K), respectively. Spinal MRI revealed that most foci had recovered (Figures 2I,J). Serum AQP4-IgG (Figure 2L) and ANA tests were negative.