A Unique Presentation of Paraneoplastic-Variant Stiff Person Syndrome
Sean Hergenrother1, Jonas St Fleur1, Ahmed Itrat2
1Northeast Ohio Medical University, 2Cerebrovascular Center, Cleveland Clinic
Objective:
NA
Background:
Stiff person syndrome (SPS) is a rare autoimmune disorder characterized by anti-Glutamic acid decarboxylase antibodies (anti-GAD Ab) targeting spinal inhibitory synapses and resulting in muscle rigidity and spasms. These spams are exquisitely painful and can be brought on by tactile stimulation or by stress. It is crucial to recognize and treat SPS due to its progressive nature and potential for permanent disability.
Design/Methods:
NA
Results:

A 52-year-old man with a history of hypertension and a thymic neoplasm presented with subacute development of bilateral lower extremity weakness, dyspnea, and gait difficulty. Physical exam demonstrated mild weakness in bilateral lower extremities, along with concurrent spasticity and hyperreflexia in all muscle groups of his lower extremities. He exhibited 4+ patellar reflexes and a sustained ankle clonus bilaterally. Additionally, fasciculations in lower extremities were noted. His sensory exam was unrevealing. Imaging of his neuro-axis did not demonstrate any obvious structural etiology of his symptoms. Serological testing confirmed antibody positivity for both Acetylcholine Receptor Antibodies (Ach R binding Ab, 1.09 nmol/L) and anti-GAD Ab (>120 IU/mL). A clinical diagnosis of SPS was made. The patient was treated initially with IVIG and diazepam, followed by an eventual thymectomy leading to sustained clinical improvement.

It is estimated that about one-third of patients with thymomas will have an associated paraneoplastic syndrome (PNS), most commonly myasthenia gravis. A paraneoplastic-variant of SPS is rare and accounts for 5-10% of all cases. Thymoma resection often improves symptoms; however, patients need monitoring for recurrence or new paraneoplastic syndromes—21% experience recurrence or new PNS post-thymectomy.


Conclusions:
In patients with known or newly diagnosed thymomas, neurological symptoms should prompt workup for a broader differential, including diagnoses such as SPS which may rarely present as a paraneoplastic phenomenon as in our case. 
10.1212/WNL.0000000000210460
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