Area postrema syndrome in neuromyelitis optica spectrum disorder: diagnostic challenges and descriptive patterns

Abstract

Background: Although area postrema syndrome (APS) is one of the core clinical features of neuromyelitis optic spectrum disorder (NMOSD), it is frequently misdiagnosed as gastrointestinal or systemic disorders. In this study, we describe the diagnostic challenges in NMOSD patients with APS and their characteristic clinical and radiological features. All patients who attended our university hospitals during the period from March 2019 to August 2020 with a diagnosis of NMOSD according to the latest diagnostic criteria were admitted and evaluated clinically, radiologically with gadolinium-enhanced brain and spinal MRI, measures of serum Anti-Aquaporin 4 (Anti-AQP4) and clinical status using the Expanded Disability Status Scale (EDSS) scores. APS was diagnosed if there was a history of intractable nausea, vomiting, or hiccups (INVH) that had lasted longer than 1 week with the exclusion of other etiologies, or less than 48 h if associated with a lesion in the dorsal medulla on MRI scan. Results: Twenty out of 90 (22.2%) identified patients with a diagnosis of NMOSD had a history of unexplained intractable nausea, vomiting or hiccoughs lasting an average of 20 days. Seventeen patients were anti-Aquaporin 4 seropositive. Seven patients (35%) presented initially with isolated clinical features of APS and were diagnosed only after subsequent relapse. Patients with APS preceding other core clinical presentations (13 cases, 65%) were diagnosed after development of motor manifestations. All patients developed acute myelitis during the course of illness. Brain and spinal MRI scans showed that 13 had a linear lesion in the dorsal tegmentum of the medulla oblongata adjacent to the fourth ventricle. Otherwise, longitudinally extensive transverse myelitis was found in 80%, while 35% showed extension of the cord lesion to the AP. Conclusions: APS as a core clinical characteristic of NMOSD is not a rare presentation as was previously thought and can occur in both AQP4-seropositive and seronegative NMOSD.