Study Highlights Rare Case of Neuromyelitis Optica Spectrum Disorder Complicated by Posterior Reversible Encephalopathy Syndrome

Newly published in Cureus, researchers reported a rare case of neuromyelitis optica spectrum disorder (NMOSD) in a young woman with Sjögren's syndrome (SS) and autoimmune hepatitis (AIH), further complicated by posterior reversible encephalopathy syndrome (PRES). Presented at the 2024 Japanese Society of Neuroradiology Annual Meeting, held February 9-10, in Saitama, Japan, the case underscored the complexity of diagnosing and treating these co-occurring autoimmune disorders.¹

In the case, the 28-year-old patient initially presented with nausea, singultus, and numbness in her upper body. Brain imaging revealed optic neuritis and a lesion in the area postrema, leading to a tentative diagnosis of NMOSD. However, her condition worsened the following day with the onset of status epilepticus. Subsequent MRI scans revealed significant cerebral edema and hemorrhaging, confirming the diagnosis of PRES. The patient's serum tests later confirmed the presence of anti-aquaporin-4 antibodies, solidifying the NMOSD diagnosis.

^“NMOSD can occur in association with other autoimmune diseases, and it is important to recognize NMOSD based on imaging findings, though it may be difficult to differentiate from CNS lesions of SS. The mechanisms by which NMOSD coexists with PRES are varied. Treatments for NMOSD such as steroids and plasma exchange may possibly cause the development of PRES, thus careful monitoring of the treatment is essential,” lead author Yumiko Fujiwara, MD, Department of Radiology, Osaka Red Cross Hospital, and colleagues, wrote.¹

The patient’s complex presentation began when she was admitted to the hospital for symptoms of nausea, difficulty eating, and neck numbness. Upon further examination, visual acuity loss in her left eye was noted, and brain MRI results revealed optic neuritis and a lesion indicative of acute myelitis, consistent with NMOSD. In response, she was started on high-dose steroids and plasmapheresis.

READ MORE: First Report of Hemorrhagic LETM in NMOSD Highlights Need for Prompt Intervention

However, her clinical situation rapidly deteriorated, and she developed status epilepticus, necessitating further imaging. Follow-up MRIs revealed significant edematous changes in both the cortex and deep white matter of the frontal, parietal, and occipital lobes, as well as the basal ganglia and cerebellum. These areas were also affected by hemorrhaging and meningeal enhancement, a clear indication of PRES.

Further testing revealed the presence of anti-aquaporin-4 antibodies, a known marker for NMOSD, which confirmed the diagnosis. The patient's history of autoimmune conditions, including SS and AIH, complicated the interpretation of her CNS lesions, as these conditions can also cause similar neurological symptoms. Prior reports of NMOSD and PRES occurring together are considered rare, but they have been documented, with potential mechanisms for their co-occurrence being explored.²

Notably, this case emphasized the importance of considering NMOSD in patients with autoimmune diseases presenting with neurological symptoms such as optic neuritis or acute myelitis. This case may also shed light on the potential involvement of SS in triggering NMOSD, as temporal changes in the patient’s antibody titers suggest a possible link between the 2 conditions.

“In summary, this case was finally diagnosed as NMOSD complicated by PRES. The positive anti-AQP4 antibody, optic neuritis, acute myelitis, and the lesion in the area postrema met the diagnostic criteria for NMOSD. Additionally, the patient developed status epilepticus, and PRES was suspected based on the clinical course and MRI findings. The follow-up MRI showed improvement consistent with the course of PRES,” Fujiwara et al noted.¹

REFERENCES
1. Fujiwara Y, Mori N, Fukuda M, et al. A case of neuromyelitis optica spectrum disorder complicated by posterior reversible encephalopathy syndrome with pre-existing Sjögren's syndrome and autoimmune hepatitis. Cureus. 2025;17(1):e78098. doi:10.7759/cureus.78098
2. Yang B, Guo L, Yang X, Yu N. The pathogenesis and treatment of posterior reversible encephalopathy syndrome after neuromyelitis optica spectrum disorder: a case report and literature review. BMC Neurol. 2022;22(1):493. Published 2022 Dec 20. doi:10.1186/s12883-022-02985-8