Clinico-Etiological Spectrum and Functional Outcomes of Children with Pre-Status Dystonicus and Status Dystonicus (SD): A Descriptive Study

Abstract

Background: Status dystonicus (SD) is a life-threatening movement disorder emergency characterized by increasingly frequent and severe episodes of generalized dystonia, requiring urgent hospital admission. The diverse clinico-etiological spectrum, high risk of recurrence, and residual disabilities complicate functional outcomes. Aim: We aim to describe the clinico-etiological spectrum, radiology, therapeutic options, and follow-up of patients with pre-status dystonicus (pre-SD) and SD. Methodology: A cross-sectional retrospective study was carried out in a tertiary care referral center. The clinical, laboratory, and radiology data of all patients aged less than 18 years with pre-SD and SD from January 2010 to December 2020 were collected. The Dystonia Severity Assessment Plan (DSAP) scale for grading severity and the modified Rankin Scale (mRS) for assessing outcome were used at the last follow-up visit. Results: Twenty-eight patients (male:female: 2.1:1) experiencing 33 episodes of acute dystonia exacerbation were identified. The median age at the onset of dystonia and SD presentation was 8.71 (range: 0.25–15.75) and 9.12 (range: 1–16.75) years, respectively. Four patients experienced more than one episode of SD. The etiological spectrum of SD includes metabolic (Wilson’s disease—13, L-aromatic amino acid decarboxylase deficiency—one, and Gaucher’s disease—one), genetic (neurodegeneration with brain iron accumulation—three and KMT2B and THAP 1 gene-related—one each), structural—three, post-encephalitic sequelae (PES)—four, and immune-mediated (anti-NMDA receptor encephalitis—one). Five patients had pre-SD (DSAP grade 3), and 23 patients had established SD (DSAP grade 4—17 and DSAP grade 5—six). The Rapid escalation of chelation therapy precipitated SD in 11 patients with Wilson’s disease. Febrile illness or pneumonia precipitated SD in nine patients. Twenty-three episodes of SD required midazolam infusion in addition to anti-dystonic medications. The median duration of hospital stay was 10 days (range: 3–29). Twenty-three patients had resolution of SD but residual dystonia persisted, while two patients had no residual dystonia at follow-up. Three patients succumbed owing to refractory SD and its complications. Conclusion: Early identification of triggers, etiology, and appropriate management are essential to calm the dystonic storm.