Abstract Details

Title Coexistence of neuromyelitis optica and stiff person syndrome in a single patient: a case report

Topic Autoimmune Neurology

Presentation(s) P2 - Poster Session 2 (5:30 PM-6:30 PM)

Poster/Presentation
Number 15-032

Objective

To report a case of seropositive neuromyelitis optica (NMO) and coexistent glutamic acid decarboxylase (GAD) associated stiff person syndrome (SPS).

Background Epidemiological studies highlight potential shared pathophysiology, environmental and genetic risk factors for autoimmune disease. Polyautoimmunity is defined as the presence of more than one autoimmune disease in a particular patient and can be found in up to 30% of those with autoimmune diseases.

Design/Methods NA

Results A 47-year old Caucasian female with pernicious anemia presented with progressive, episodic muscle spasms and low back pain, exacerbated by physical activity and emotional stress with normal neuroimaging. A serum glutamic acid decarboxylase (GAD) antibody was positive at greater than 250 IU/mL (normal <5 IU/mL). She was diagnosed with stiff person syndrome. One and one half years later, developed ascending numbness to the umbilicus with asymmetric leg weakness, left greater than right, over 2 weeks. She was treated with a course of IV methylprednisolone. Her follow up neurologic exam revealed Ashworth grade 1 spasticity in lower extremities, symmetric hyperreflexia with positive Hoffman’s sign bilaterally, and decreased pinprick sensation in left lower extremity. Neuroimaging showed a T2 hyperintense expansile cord lesion from C2-C4 and T1-T9 with patchy post-contrast enhancement. MRI brain was unremarkable. CSF testing at the time of transverse myelitis revealed lymphocyte-predominant pleocytosis with normal glucose, protein, IgG index and oligoclonal bands. Serum aquaporin-4 (AQP-4) IgG antibody by cell-based assay was positive with titer 1:10,000. ANA was positive at 1:640. Extensive infectious, autoimmune, and malignancy screening was unremarkable. She was treated with rituximab with stabilization of NMO and resolution of SPS symptoms. Her follow up MRIs showed resolution of contrast enhancement.

Conclusions This is the first case report to our knowledge of a patient with AQP-4 and GAD antibody positivity and related clinical syndromes. Recognition of complex presentations to guide appropriate evaluation and management is essential.

Authors/Disclosures
Amanda Thuringer, DO (University of Kansas Medical Center) PRESENTER	Dr. Thuringer has nothing to disclose.
Yasir N. Jassam, MD, FRCP, FAAN (Hoag Specialty clinic)	Dr. Jassam has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Dr. Jassam has received research support from Roche, Chugai Pharmaceutical MedImmune LLC.Novartis, MedDay. Actelion, Alexion Pharmaceuticals,TG Therapeutics Alexion Pharmaceuticals, Teva Pharmaceuticals, Genentech phamarcetucal companies..

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