Objective: To describe clinical, para-clinical, therapeutic and evolutionary characteristics of movement disorders (MD) and oculogyric crises (OC) in children with monoamine neurotransmitter disorders (MND)

Background: The MND are a group of heterogeneous neurological disorders characterized by defects in the biosynthesis, degradation, or transport of neurotransmitters. A clinical approach based on careful analysis of MD can help identify these disorders

Method: Retrospective study including children with a genetically confirmed or highly suspected diagnosis of MND and followed in the department of Pediatric Neurology at the National Institute of Neurology of Tunis, between 2011-2023. Genetic diagnosis was determined by Whole Exome Sequencing (WES). Demographic, clinical, biological, radiological and outcome features were analyzed

Results: We included seven patients (four girls and three boys), from four families. Consanguinity was found in six cases. All patients presented with a clinical phenotype of early-infancy onset encephalopathy [3-9 months]. Hyperkinetic MD were found in five patients. Two patients had mixed MD. Dystonia found in all patients, was generalized in six cases and focal (orolingual) in two. Drug-induced dyskinesia was noted in three patients. All patients had intermittent dystonic crises. OC were found in six cases with an average duration of 9 hours. Bradykinesia was noted in two patients. Sleeping difficulties, autonomic dysfunction and irritability were constant. All patients had elevated prolactin levels. Neurotransmitters analysis in cerebral spinal fluid showed a profile consistent with Tyrosine Hydroxylase (TH) deficiency in five cases. WES showed a mutation in TH gene in two patients and was negative in one case. Four patients are awaiting WES results. Treatment was based on Levodopa in all cases, Dopamine Agonists in five patients and Monoamine Oxidase Inhibitors in two cases. Other supportive treatments were Clonazepam and Pyridoxine. Treatment reduced the frequency of OC and improved dystonia and other motor and vegetative signs. Levodopa was transiently effective in all patients.

Conclusion: MND should be suspected in children presenting with generalized or focal dystonia, oculogyric crisis, bradykinesia and neurovegetative disturbance. Appropriate investigations including neurotransmitters analysis in the CSF and genetics, are essential for an early diagnosis, as MD respond well to specific therapies

« Back to 2024 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/movement-disorders-in-children-with-monoamine-neurotransmitter-disorders/