Misdiagnosis of multiple sclerosis: Two tertiary centers experience in Saudi Arabia

Precise diagnosis is the first and most important management step for any disease. Misdiagnosis of multiple sclerosis (MS) will result in profound consequences for patient morbidity, family, and healthcare systems. Misdiagnosis may delay appropriate care and lead to unnecessary or harmful treatments. Recognizing this ongoing issue, we aimed to determine the incidence of MS misdiagnosis among patients referred to two MS-specialized clinics, characterizing the patient population and identifying the most frequent alternative diagnoses. Records of 1,223 patients referred to clinics between 2017 and 2022 were retrospectively reviewed by four neurologists with subspecialty expertise in MS. Of these, 54 patients (4.4%) were misdiagnosed with MS. The majority were females (62.96%). The most common alternative diagnoses included non-specific or non-localizing neurologic symptoms with abnormal magnetic resonance imaging (MRI) findings (14.81%) and undifferentiated white matter disease (16.6%). Additional diagnoses were neuromyelitis optica spectrum disorder (11.11%), myelin oligodendrocyte glycoprotein antibody disease (5.5%), cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (7.41%), and migraine (7.41%). Misdiagnosis not only hinders timely management but also imposes psychosocial stress and financial burdens on patients while straining healthcare resources. Our findings underscore the need for heightened diagnostic vigilance and increased awareness of factors contributing to MS misdiagnosis.