Introduction: Generalized dystonia may progress to a very severe persistence devastating dystonia that can be life threatening. This form of dystonia can induce rhabdomyolysis and respiratory dysfunction. Here, we report on two pediatric patients with generalized status dystonicus.
Methods: Two pediatric patients with status dystonicus (dystonic storm) who underwent urgent deep brain stimulation were analyzed. Dystonia severity (motor) and disability scales were applied using BFMDRS. Demographic data, type of dystonia, associated clinical features, Magnetic Resonance imaging (MRI) features, electrophysiology data, and stereotactic targets were analyzed.
Results: The first patient was a 10 year-old boy who developed transient febrile illness followed by neurological deterioration. Subsequently; he developed severe generalized dystonia and spasm, inability to verbalize. His BEMDRS score was 116 and creatinine kinase was around 2000. MRI brain depicts complete neuronal loss of glopus pallidus internus (GPI) and substantia nigra (SNR). He underwent deep brain stimulation targeting bilateral thalamus (VOA) and zona incerta (ZI). Neurophysiology recording from GPI area revealed silent neuronal activities. He had a 70% improvement in his symptoms. After 3 months of DBS, he is able to walk, eat, and he regained speech function. The second patient is a 9 year-old boy who developed progressive generalized dystonia over 11 months till he developed a fixed twisted body position that lead to severe weight loss due to poor feeding. BFMDRS score was 108. MRI brain did not reveal any structural abnormalities. He underwent bilateral GPI DBS after which he improved over 4 months (88%). He was able to attend public school 5 months after DBS.
Conclusions: The pathophysiology of status dystonicus remains poorly understood. Urgent deep brain stimulation can be a life saving procedure that restore functional state. Multitargeting method may increase the chance of benefit from DBS
Patient Care: Multitargeting might increase the chance of benefit from DBS in status dystonicus
Learning Objectives: Multitargeting method in cases with neuronal loss of certain known DBS targets
Alternative targets for treating dystonia