Diagnostic features of the neuromyelitis optica spectrum disorders in real clinical practice
TL;DR
Four clinical cases of NMOSD that illustrate the difficulties in making a timely diagnosis due to an ambiguous clinical, radiological and laboratory picture were presented and strategies to improve the early diagnosis of NMOSD to prevent such outcomes were proposed.
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.