Objective: To our knowledge, there have not been any reports of deep brain stimulation (DBS) used in the treatment of stiff-person syndrome (SPS) in the literature. Our aim is to report a case of such a patient that responded well to DBS treatment.

Background: SPS is a rare, autoimmune condition affecting one to two patients per million. It can have variable presentations ranging from stiffness in only one limb to whole-body stiffness, muscle spasms, and gait abnormalities that can be significantly debilitating.

Method: This is a case report of a 22-year-old female with involuntary movements characterized by hyperextension of the trunk and flexion of the arms and legs that rapidly became uncontrollable after an ovarian cyst resection. It progressed to inability to walk due to acute episodes of stiffness in the lower extremities.

Results: Initial workup was notable only for mildly elevated acetylcholine receptor ganglionic antibodies. She had empiric treatment with IV solumedrol, IVIG, and rituximab without improvement. With a working diagnosis of generalized dystonia and refractory symptoms, she had a DBS placed in the bilateral globus pallidus interna (GPi). Upon evaluation by multiple movement disorder specialists, she was suspected to have SPS given history of painful spasms, an EMG consistent with possible SPS, and positive GAD65 antibodies. Her stiffness and spasms were significantly improved following DBS. We evaluated the patient in the setting of an emergent need for DBS battery replacement. Prior to replacement, she had significant whole-body spasms causing fever and rhabdomyolysis. Post-operatively, she was calm, able to sit up in bed, and converse.

Conclusion: Stiff-person syndrome can be difficult to diagnose because its presentation can be so variable from patient to patient. Patients, like ours, may initially be diagnosed with another condition. For our patient, in the two years since DBS placement, family has noticed ~80% improvement in her symptoms. Her previous examinations that were notable for persistent involuntary movements and muscle spasms are significantly improved, and she has recovered some level of functioning. This compels us to consider DBS as a treatment for SPS as it may be able to significantly improve the quality of life for our patients.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/case-report-deep-brain-stimulation-as-a-potential-treatment-for-stiff-person-syndrome/