Clinical Characteristics and Neuroradiological Findings Among Children With Dystonia (excluding Dystonic Cerebral Palsy) In The Western Cape of South Africa.

Abstract: Clinical characteristics and neuroradiological findings among children with dystonia (excluding dystonic cerebral palsy) in the Western Cape of South Africa.

Objectives To delineate clinical and radiological features of children with dystonia from Western Cape of South Africa. Methods A retrospective observational study of children with dystonia excluding those with dystonic cerebral palsy. Data captured demographics, phenotypic and investigational aspects. Ethical approval and consent were obtained. Results 50 children met inclusion criteria of dystonia(Male1.2: Female1).Children presented <1year(32%), 1-3years(28%), 3-5years(36%), and >5years(4%). 15 had a family history of dystonia. Most patients had generalized dystonia (n=36(72%)) and 21(42%) had severe dystonia. Neuroregression occurred in 24%(n=12), learning difficulties in 34(68%) and 12 had epilepsy. 10 also had dyskinesia and 8 tremor and ataxia. Triggers were infection in 38% and exercise in 18%. Etiologies included bilirubin encephalopathy(n=1), post meningitis/encephalitis(n=7), Glutaric aciduria (n=9), suspected neurodegeneration with brain iron accumulation (n=9) and autoimmune etiology(n=1). Brain MRI was normal in 23(46%), 11(22%) had bilateral symmetrical basal ganglia enhancement, 10(20%) cortical involvement post-encephalitis and 33(66%) had basal ganglia and subthalamic injury. 24 patients underwent genetic testing, five had GCDH mutations(Glutaric aciduria) and one had SGCE mutation(DYT11 dystonia myoclonus syndrome). L-dopa was prescribed with benefit in 18(36%) patients. Conclusions Our study identified a significant number of children with dystonia related to genetic or postinfectious etiologies. In our setting with frequent hypoxic birth insults these potentially remedial etiologies are often missed. Early recognition and referral could improve the potential outcomes for these children with collaborative multidisciplinary team approach and management.