Case Presentation: This is a 68 year old female with a past medical history of atrial fibrillation, hypothyroidism, osteoarthritis and right hip replacement who came into Mountainside Medical Center initially for sepsis secondary to a urinary tract infection. Once in the hospital the patient incidentally mentioned having a six month history of bilateral lower extremity stiffness. She was initially treated with Baclofen and Gabapentin therapy for her stiffness and associated muscle spasms. On physical examination the musculoskeletal examination was significant for hyper lordosis, bilateral lower extremity rigidity and inability to bend her knees bilaterally. She also presented with bilateral lower extremity contractures, for which she required reconstructive Achilles tendon repair surgery. Sensation was intact in bilateral lower extremities. There was slight stiffness present in bilateral upper extremities with normal sensation present. Neurological examination comprised of abnormal muscle tone. The patient was awake, alert and oriented x3. Her cranial nerve examination was normal. The rest of the patient’s physical examination was unremarkable. Post-surgery the patient was discharged to a rehabilitation center for physical therapy. She was readmitted to the emergency department for worsening lower back pain, muscle spasms, numbness, tingling and stiffness in bilateral upper and lower extremities. MRI of the cervical, thoracic and lumbar spine was performed and found negative for acute fractures and cord compression. During this admission blood work including Glutamic Acid Decarboxylase Antibody was performed. The patient was found to have significant elevation of the glutamic acid antibody protein leading to the diagnosis of Stiff Person Syndrome. First line treatment for this illness includes IVIG therapy. Unfortunately due to a recent shortage of IVIG in America the patient was treated with the next best treatment option. She was then started on rituximab 600 mg IV weekly for 4 weeks as per neurology recommendations. Within a few weeks of Rituximab therapy the patient’s symptoms significantly improved.
Discussion: Stiff Person Syndrome is an underdiagnosed yet preventable disease. It is an autoimmune disease which attacks the Glutamic Acid Decarboxylase Antibody, a protein responsible for formation of GABA. GABA is an inhibitory neuron responsible for controlling muscle movement. It is pertinent diagnosticians know to how recognize, diagnose and treat patients with Stiff Person Syndrome in a timely manner. If caught early on there can be a significant decrease in disability and recurrent hospitalizations in affected patients.
Conclusions: The purpose of this case is to highlight the importance of recognition and performance of proper diagnostic work up most importantly testing for the Glutamic Acid Decarboxylase antibody in patients with Stiff Person Syndrome. It is a treatable disease and should be considered in patients with unexplained stiffness and spasms.