Diagnostic features of the neuromyelitis optica spectrum disorders in real clinical practice

Abstract

Neuromyelitis optica spectrum disorders (NMOSD) constitute a group of rare, autoimmune and often disabling diseases of the central nervous system. Despite clear diagnostic criteria for NMOSD, diagnostic errors remain a serious problem, leading to delays in necessary treatment and adverse outcomes. This article presents four clinical cases of NMOSD that illustrate the difficulties in making a timely diagnosis due to an ambiguous clinical, radiological and laboratory picture. In these cases, clinical manifestations typical of NMOSD (optic neuritis, acute myelitis and area postrema syndrome) are described; however, the patients were initially referred to specialists in other fields: ophthalmologists, gastroenterologists and neurosurgeons, which led to a delay in their referral to the Multiple Sclerosis Centre and a late diagnosis. The delayed initiation of pathogenetic therapy in two patients led to the development of persistent severe disability as a consequence of NMOSD exacerbations. Factors contributing to the prolonged time to diagnosis were analyzed, and strategies to improve the early diagnosis of NMOSD to prevent such outcomes were proposed.