Assistant Professor Nemours children’s Hospital - Delaware Wilmington, Delaware, United States
Case Diagnosis: This case report details the acute development of status dystonicus and persistent, refractory dystonia and rigidity in a patient with Rett Syndrome (RTT).
Case Description: A 21-year-old female with RTT presented with acute dystonia and rigidity following posterior spinal fusion. Her postoperative course was complicated by infection requiring multiple washouts. The patient was admitted for signs of impending status dystonicus, including elevated creatine kinase and board-like rigidity refractory to medications. Following a one-month hospitalization, her symptoms persisted despite resolved infection and she was discharged on multiple medications. Her tone gradually improved six months after presentation without connection to a specific medication. There remained no identifiable cause of her persistent dystonia despite work ups with multiple specialties. The patient was weaned off of all movement disorder medications by 21 months post-presentation but developed significant contractures due to her protracted course.
Discussions: RTT is a neurodevelopmental disorder characterized by regression in skills of cognition and movement. Its motor manifestations typically begin with repetitive hand movements, followed by weakness, tremors, gait abnormalities, and spasticity. The concomitant presence of rigidity and dystonia in some RTT patients has been increasingly recognized and places them at risk of developing status dystonicus - a medical emergency especially dangerous for patients with RTT due to their baseline medical complexity. Currently, there are no published reports of status dystonicus in a patient with RTT, although the physicians in this case knew anecdotally of two patients with similar presentations, unknown triggers, and time courses.
Conclusions: Patients in status dystonicus must be recognized and treated swiftly. Dystonia and rigidity are not classically associated with Rett Syndrome but, if present, require monitoring to avoid escalation to status dystonicus. With improvements in care, people with RTT are now living to their 40s-50s, making this a relevant condition for adult as well as pediatric physiatrists.
