SRNA maintains our commitment to advancing the scientific understanding of ADEM, AFM, MOGAD, NMOSD, ON, and TM to help improve diagnostic speed and accuracy. Some of this SRNA-supported research was presented at the American Academy of Neurology Annual Meeting, which was held from May 4th-10th in Philadelphia, PA.
Dr. Olwen Murphy, a former James T. Lubin Fellow, and a team at The Johns Hopkins Hospital presented research on sarcoidosis-related myelitis. The research was a retrospective study of patients diagnosed with sarcoidosis-related myelitis at the Johns Hopkins Transverse Myelitis Center. The goal of the study was to identify characteristic clinical, imaging and CSF features of sarcoidosis-related myelitis. They found that distinct imaging patterns occur in sarcoidosis-related myelitis and recognition of these features may aid in coming to a correct diagnosis. Most of the patients in the study had a long symptom evolution (81%), meaning it took more than three weeks from symptom onset to when symptoms were at their worst. Most had sensory symptoms (87%) and motor symptoms (53%). Enhancement patterns suggest that the blood-spinal-cord barrier may play a role in the development of sarcoidosis-related myelitis lesions. Dr. Murphy and colleagues also presented a case report on a 68-year-old man who presented with a 2-year history of severe muscle spasms in the lower back and pelvic region. The patient was ultimately referred to their clinic for evaluation of “treatment-resistant” stiff person syndrome after baclofen and benzodiazepines had no clinical effect. He was correctly diagnosed with an anterior disco-osteo-arterial conflict and underwent surgery to correct the problem. Six months post-surgery he reported marked improvement in his symptoms and increased exercise tolerance. The findings from these studies provide additional information about these diagnoses, which are important for ensuring people receive an accurate diagnosis.
Dr. Jonathan Galli, another James T. Lubin Fellow, worked with Dr. Clardy on another research study about stiff person syndrome. The goal was to describe epidemiological characteristics, antibody status, and treatment outcomes of stiff person syndrome patients within University of Utah Health. Stiff person syndrome (SPS) is an autoimmune disease that classically causes severe muscle rigidity and spasms. They identified 31 patients with stiff person syndrome. Patients were predominantly female (78%). Some of their cohort had co-existing autoimmune diseases (63%) and malignancy (13%). Diazepam and baclofen was effective in a majority of patients. IVIg was the most commonly utilized immunotherapy (used in 69% of patients) with benefit demonstrated in 41% of patients who received this treatment. Dr. Galli and colleagues also presented a case series with the goal to describe atypical epilepsy presentations in patients with common variable immunodeficiency (CVID) within the University of Utah Healthcare system. Patients with CVID are at increased risk of infection, malignancy, and autoimmune disease. They presented a case series of 5 patients with CVID and co-existing epilepsy. All patients had atypical seizure symptoms including behavioral arrest, alterations in consciousness, and/or amnestic episodes. Most of the patients had improvement with antiepileptic therapy.
Dr. Cynthia Wang, another former James T. Lubin Fellow, and colleagues presented a case report of a 6-year-old boy with new-onset seizures and altered mental status associated with multifocal right hemispheric lesions resulting from primary CNS vasculitis. Primary CNS vasculitis is a rare vascular inflammatory brain disease. The child was treated with cyclophosphamide with gradual improvement in cerebral edema, and he also underwent cranioplasty four weeks after hemicraniectomy. He improved significantly over one month in inpatient rehabilitation and he regained the ability to ambulate independently. The researchers note that this case demonstrates an unusual presentation of this condition in a child.