Stiff Person Syndrome (SPS) is an uncommon disorder that typically presents with fluctuating muscle rigidity causing painful muscle spasms and in some cases, respiratory distress due to severe respiratory muscle spasms.
This patient had a history of GAD antibody positive SPS that presented at age 17 with spells suggestive of seizure, and then represented 2 years later with stiffening of leg musculature and gait difficulty. She was intolerant to multiple treatments including intravenous immunoglobulin (IVIg) and Rituximab.
At age 22 she presented acutely with multiple episodes of sustained upward gaze accompanied by jaw clenching and diaphragmatic spasms causing respiratory distress, including cyanosis, requiring oral endotracheal intubation. The jaw clenching episodes obstructed the endotracheal tube. During these spells she appeared to be able to respond, and sometimes tracking upon visual stimuli. On video electroencephalogram (VEEG) there was anterior 10 Hertz (Hz) activity (propofol effect) and intermittent left temporal arrhythmic 1-2 Hz activity with sustained 6-7 cycles-per-second (cps) muscle artifact. No epileptiform activity noted.
Even after nasal intubation, she could not be ventilated due to diaphragmatic involvement. She was paralyzed and sedated. She was treated as an inpatient for 6 months with high dose benzodiazepines, and plasmapheresis (ineffective), then IVIg with a decrease in frequency of spells.
She was eventually discharged home with a tracheostomy, weekly IVIg, and Diazepam 75 mg every 6 hours (300 mg a day). Her respiratory spells have resolved and her tracheostomy closed.