Objective: To highlight the challenges in upper airway management following deep brain stimulation (DBS) in patients with severe, medically refractory DYT1 dystonia and to emphasize the need of early surgical intervention to prevent respiratory complications associated with prolonged dystonia.

Background: DYT1 dystonia is a rare autosomal dominant disorder characterized by early-onset focal dystonia that may progress to generalized dystonia in 50% of patients. DBS of the globus pallidus internus (GPi) is a well-established treatment for medical refractory DYT1 dystonia or status dystonicus (SD), significantly reducing symptoms.

Method: We reported a male patient with DYT1 dystonia developed foot dystonia at age 6, generalized dystonia at age 8. He had a partial response to baclofen, clonazepam, benzhexol hydrochloride and local botulinum toxin injection but some medications were discontinued due to adverse effects. DBS was advised at age 10 due to severe generalized dystonia, but the family declined. Unfortunately, SD requires intensive care unit admission at age 12. Seven months later, bilateral GPi-DBS was performed and the dystonia severity improved within 2 months (Fahn-Marsden Dystonia Rating Scale, 112 → 64, 43% improvement).

Results: Although his dystonia symptoms improved, multiple extubation failures due to upper airway obstruction led to a tracheostomy six weeks later. He was weaned off mechanical ventilation by week 12 but developed recurrent pneumonia, tracheal granulation tissue requiring surgery, and tracheomalacia by age 14. The COVID-19 pandemic disrupted follow-ups after DBS programming, leading to inadequate airway monitoring. At age 15, he experienced acute bleeding from the tracheostomy site, resulting in complete airway obstruction. Despite emergent resuscitation, he was pronounced dead.

Conclusion: Early GPi-DBS should be strongly considered in severe, medically refractory DYT1 dystonia to prevent complications associated with prolonged dystonia. However, despite improvements in motor symptoms, airway compromise may persist due to irreversible musculoskeletal and soft tissue changes. Patients with severe cervical involvement and long-term tracheostomy dependence are at high risk for life-threatening airway complications, necessitating continuous, multidisciplinary follow-up.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/challenges-in-airway-management-after-deep-brain-stimulation-in-dyt1-dystonia-a-case-report/