Abstract
Background: Hyperkinetic movement disorder characterized by involuntary sustained or intermittent muscle contractions causing repetitive twisting movement, abnormal postures, or both is called dystonia. Its extreme severity is called ‘Dystonic Storm’, which is a life-threatening medical emergency. This is the only case that was managed with two surgical interventions, the Intrathecal Baclofen pump followed by Deep Brain Stimulation to Globus Pallidus Interna in addition to medical managementCase presentation: 16 years old boy, presented with insidious onset gradually progressive dystonia. Initially, he developed in lower limbs than in both upper limbs and the cervical region at the age of 08 years. His dystonia of the neck, arms, and trunk increased, walking became a problem, and even sitting became difficult over 24 hours. Dystonia movement continued even during sleep associated with dysautonomia. On investigation, his Creatine Phosphokinase was raised with 1324 IU/I. Bilirubin was normal but, liver enzymes were mildly raised. Urine for myoglobulin was negative, MRI was normal. He was managed as a case of dystonic storm injectable Vecuronioum infusion and Midazolam infusion. However, even then dystonia continued. Since dystonia was refractory to supportive and specific medical management, two-step procedures were planned to control the refractory dystonic storm. The first step was an Intrathecal Baclofen Pump as bridge therapy and then Deep Brain Stimulation to Globus Pallidus Interna was done. As part of an etiological investigation, his Clinical exome sequencing showed the CACNA1E gene, autosomal dominant (heterozygous) missense mutation on chromosome 1. Pathogenic CACNA1E variants presented with variable Developmental and Epileptic Encephalopathies characterized by movement disorders including dystonia in 60% cases. Conclusion: Status dystonicus is a rarest and life–threatening movement disorder emergency that requires both medical management (supportive and directive to precipitating factor and dystonia) and surgical intervention in a stepwise manner. Appropriate time of surgical intervention is key in management of dystonic storm.
Individualized tractography-based parcellation of the globus pallidus pars interna using 7T MRI in movement disorder patients prior to DBS surgery
