Researchers have reported a rare and intricate case of neuromyelitis optica spectrum disorder (NMOSD) in a young woman who also had Sjögren’s syndrome (SS) and autoimmune hepatitis (AIH). The patient’s condition was further complicated by posterior reversible encephalopathy syndrome (PRES). This case was presented at the 2024 Japanese Society of Neuroradiology Annual Meeting, held in Saitama, Japan, on February 9-10.

Initial Symptoms and Diagnosis

The 28-year-old patient initially experienced nausea, hiccups, and numbness in her upper body. Initial brain imaging showed signs of optic neuritis and a lesion in the area postrema, leading to a tentative diagnosis of NMOSD. However, her condition took a sudden turn for the worse with the onset of status epilepticus the following day.

Complication of PRES

Subsequent MRI scans revealed significant cerebral edema and hemorrhaging, confirming the presence of PRES. The diagnosis of NMOSD was further solidified by serum tests that detected anti-aquaporin-4 antibodies, a known marker for the disease.

Medical Complications and Treatment Challenges

Lead author Yumiko Fujiwara, MD, and her colleagues from the Department of Radiology at Osaka Red Cross Hospital, highlighted the importance of recognizing NMOSD based on imaging findings. NMOSD can overlap with other autoimmune diseases, making diagnosis more challenging. The mechanisms for NMOSD coexisting with PRES are complex, and treatments like steroids and plasma exchange, used in managing NMOSD, can sometimes lead to PRES.

Initial Hospital Admission and Treatment

The patient was initially admitted for symptoms including nausea, difficulty eating, and neck numbness. Upon examination, she exhibited visual acuity loss in her left eye. Brain MRI confirmed optic neuritis and acute myelitis, aligning with NMOSD symptoms. She was prescribed high-dose steroids and plasmapheresis.

Worsening Condition and MRI Findings

Despite the initial treatment, her condition rapidly deteriorated, leading to status epilepticus. Follow-up MRI scans revealed extensive cerebral edema and hemorrhaging in various brain regions, including the frontal, parietal, occipital lobes, basal ganglia, and cerebellum. These findings confirmed PRES.

Further Testing and Diagnosis

Further diagnostic tests revealed anti-aquaporin-4 antibodies, confirming the NMOSD diagnosis. Her existing autoimmune conditions, such as SS and AIH, complicated the interpretation of her central nervous system (CNS) lesions, as these disorders can also cause similar neurological symptoms.

Significance of the Case

This case underscores the importance of considering NMOSD in patients with autoimmune diseases who present with neurological symptoms like optic neuritis or acute myelitis. It also sheds light on the potential relationship between SS and NMOSD, as suggested by temporal changes in her antibody titers.

Conclusion

The rare co-occurrence of NMOSD, SS, AIH, and PRES in this patient underscores the complexity of autoimmune diseases. It highlights the significance of imaging findings in diagnosing NMOSD and the importance of monitoring treatments that might lead to PRES. This case may also prompt further research into the relationship between SS and the triggering of NMOSD.

Notably, this nuanced case provides valuable insights for healthcare professionals dealing with autoimmune and neurological conditions.

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