Two cases of MT-ND5-related mitochondrial disorder misdiagnosed as seronegative neuromyelitis optica spectrum disorder.

Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune disease primarily affecting the optic nerves and spinal cord, which is usually associated with anti-aquaporin-4 antibodies. Here, we present two individuals who were negative for anti-aquaporin-4 antibodies and were initially diagnosed with seronegative NMOSD. Each patient's clinical course and radiographic features raised suspicion for an alternative disease process. Both individuals were found to have pathogenic variants of MT-ND5, encoding subunit 5 of mitochondrial complex I, ultimately leading to a revised diagnosis of a primary mitochondrial disorder. These cases illustrate the importance of biochemical and genetic testing in atypical cases of NMOSD.

Top Ten Tips Palliative Care Clinicians Should Know about Multiple Sclerosis.

Multiple sclerosis (MS) is a chronic, immune-mediated, neurodegenerative condition of the central nervous system, with distinct challenges due to its heterogeneous presentation, prognostic uncertainty, and variable clinical course of neurological and non-neurological symptoms and disability. Although there have been significant advances in management of MS, many patients experience disability progression. Despite MS being a frequent cause of neurological disability, particularly in young persons, involvement of palliative care physicians in the care of patients with MS has been limited. This article provides ten tips for palliative clinicians for caring for patients with MS and their care partners.

Neuroinflammation Associated With Tumor Necrosis Factor-α Inhibitor Exposure.

OBJECTIVE: To identify the frequency and clinical spectrum of neuroinflammation associated with exposure to tumor necrosis factor-α inhibitors (TNFi). METHODS: We performed a single-system retrospective cohort study. Adults in the Yale New Haven Health System with documented use of any US Food and Drug Administration-approved TNFi between 2007 and 2017 were identified via automated review of the electronic medical record. Those who also had brain MRIs were identified and categorized as either TNFi exposed or unexposed. Individuals with MRI findings concerning for neuroinflammation were identified, and detailed chart reviews were performed. RESULTS: A total of 4,391 patients received TNFi, and 547 also had brain MRI. After exclusion criteria were applied, 375 MRIs occurred after TNFi exposure, and 132 MRIs occurred before TNFi. MRIs were normal for 20.8% of exposed patients. The most common abnormal finding was nonspecific, punctate T2 hyperintensities. Seventeen cases (4.5%) among the exposed cohort had findings consistent with neuroinflammation, of which 58.8% required TNFi discontinuation and additional immunotherapy, whereas an additional 23.5% discontinued TNFi alone. After 3 years, 70.6% had stable MRI findings, whereas 11.8% demonstrated progression. The 10-year period prevalence of neuroinflammation in all subjects exposed to TNFi was 0.4%. CONCLUSIONS: Neuroinflammatory phenomena following TNFi are a common concern for those treating patients with autoimmune disease. This is a large-scale study identifying the epidemiology surrounding this phenomenon. TNFi-associated inflammation was a rare outcome in our cohort. Most treated patients had either normal or nonspecific MRI findings. Further risk stratification parameters need to be identified.

A Case of Tolosa-Hunt Syndrome With Discoid Lupus Erythematosus.

The occurrence of Tolosa-Hunt syndrome (THS) in the setting of discoid lupus erythematosus (DLE) has not been previously reported. We report a case of a 55-year-old Chinese man with established cutaneous lupus who presented with 1 week of worsening blurry vision and ptosis of the left eye with severe headache 2 weeks prior to presentation. His cranial nerve examination was significant for left afferent pupillary defect, red desaturation, ptosis, and oculomotor nerve palsy. He also presented with active DLE lesions. Magnetic resonance imaging brain demonstrated asymmetric thickening and enhancement of the left cavernous sinus consistent with THS. After a 4-week gradual steroid taper his ophthalmoplegia resolved. The unusual occurrence of THS and DLE prompts consideration of nonsystemic autoimmune disorders in diagnosis of THS.