Abstract Details

Title A Case of Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM syndrome) in a Patient with Myasthenia Gravis

Topic Autoimmune Neurology

Presentation(s) Autoimmune Neurology Posters (7:00 AM-5:00 PM)

Poster/Presentation
Number 086

Objective

To report a rare autoimmune neurologic disorder in a patient with Myasthenia Gravis (MG), successfully treated with Rituximab.

Background

Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM) is a rare disorder on the Stiff Person Syndrome (SPS) spectrum and is associated with anti-glutamic acid decarboxylase (GAD) and anti-glycine antibodies. In addition to the characteristic SPS symptoms of limb stiffness and progressive gait difficulty, PERM includes brainstem signs, autonomic dysfunction, and encephalopathy. The time course of PERM is rapidly progressive over weeks. SPS and PERM have been described in association with other autoimmune disorders and with underlying malignancy.

Design/Methods Case report.

Results A 58-year-old woman with baseline quadriplegia from a spinal cord injury initially presented with acute-onset bilateral internuclear ophthalmoplegia. Acetylcholine receptor antibodies were positive, and she was diagnosed with MG and started on pyridostigmine. Within a year of her MG diagnosis, she presented with episodes of unresponsiveness, whole body stiffening, hyperreligiosity, and impaired attention. Within a week, she progressed to severe encephalopathy. She had signs of autonomic dysfunction including intermittent fever with negative infectious workup, tachypnea, and hypertension. Malignancy workup was negative, including no evidence of thymoma. Lumbar puncture showed mild pleocytosis and elevated protein, concerning for autoimmune encephalitis, An autoimmune encephalitis panel revealed elevated anti-GAD antibodies. Her overall clinical picture was consistent with PERM, and she was treated with 5 days of IVIg and IV methylprednisolone without improvement. Subsequent treatment with 4 weeks of rituximab resulted in mental status improvement and gradual return to neurologic baseline within six months.

Conclusions This case describes a patient with MG presenting clinically with PERM, found to have positive anti-GAD antibodies and symptom resolution with rituximab. For prompt diagnosis and treatment of this life-threatening disorder, it is important recognize PERM in patients with existing autoimmune disorders.

Authors/Disclosures
Xing Dai, MD (Washington University/Barnes Jewish Hospital) PRESENTER	Dr. Dai has nothing to disclose.
Jonathan Sarezky, MD (Optum)	Dr. Sarezky has nothing to disclose.
Kara Stavros, MD, FAAN	Dr. Stavros has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Springer Healthcare LLC. Dr. Stavros has received personal compensation in the range of $500-$4,999 for serving as an officer or member of the Board of Directors for Rhode Island Medical Society.

��ɫ��

��ɫ��