Delayed diagnosis of the neuromyelitis optica spectrum disorder

Abstract

Neuromyelitis optica spectrum disorders (NMOSD) are a group of autoimmune inflammatory demyelinating diseases of the central nervous system. In 2015, International Expert Panel established diagnostic criteria for NMOSD. The majority of patients with NMOSD have aquaporin-4 autoantibody (AQP4-IgG). This case describes a 43-year-old woman who presented with weakness in her limbs followed by intractable vomiting. One year and 3 months later, she experienced acute visual impairment, which recurred several times. MRI of the spinal cord revealed a T2-hyperintense signal lesion at the cervical level extending over 4 vertebral segments. MRI of the brain showed involvement of the brainstem. AQP4-IgG was detected in her blood serum. It took 30 months from the onset of symptoms to establish the correct diagnosis. During this time, several incorrect diagnoses were made, including ischemic stroke, functional movement disorder and vertebrobasilar insufficiency. As a result of delayed diagnosis and treatment, the patient developed severe irreversible visual impairment. This case underscores the importance of early diagnosis and early treatment of NMOSD.