1130 - Dystonia Defeated: Conquering Refractory Pediatric Status Dystonicus with Deep Brain Stimulation

Case Diagnosis: Pediatric status dystonicus of unknown etiology

Case Description: A previously healthy five-year-old female began neurologically declining with reported dysarthria, urinary incontinence, axial hypotonia, right hand choreoathetosis, and tremor. Imaging, genetic testing, and antibody work-up revealed no identifiable abnormalities. Multiple medications were trialed but were either ineffective or intolerable. At age eight, she was hospitalized with acute painful generalized spastic posturing and elevated creatine kinase concerning for rhabdomyolysis. Despite multiple antispasticity agents, her dystonia worsened. Intrathecal baclofen was considered, but she was deemed too small to accommodate a pump. Eventually, only continuous pentobarbital infusion improved her dystonia, but this necessitated intubation and intensive care monitoring. Any attempt to taper treatment led to recurrent generalized dystonia. Ultimately, the patient underwent deep brain stimulator (DBS) placement with electrodes placed on the bilateral globus pallidus interna. After one month of increasing her stimulation parameters, she was successfully weaned off intravenous medications and transferred out of intensive care, with complete resolution of dystonia.

Discussions: With no identifiable cause, our patient’s symptoms were attributed to status dystonicus (SD). Status dystonicus, a disorder characterized by rapid and severe increase in dystonia, is a rare condition with only about 100 published cases. Although cerebral palsy is a common risk factor for SD, our patient was previously healthy, with no neurologic decline until school-age. Some patients with SD may respond to oral medications such as baclofen or benzodiazepines. This patient required escalating interventions, including medically induced pentobarbital coma, but ultimately responded well to DBS.

Conclusions: Physiatrists frequently manage patients with abnormal tone. In patients with sudden, severe increase in tone and posturing without identifiable etiology, status dystonicus should be considered. Prompt recognition and management is important, as the condition can be life-threatening. When medical management fails to improve symptoms, DBS may substantially improve dystonia, and thereby optimize function.