Category: Choreas (Non-Huntington's Disease)
Objective: To describe a rare pediatric movement disorders.
Background: The differential diagnosis of paroxysmal movement disorders in children are broad and challenging. Early recognition by neurologists and movement disorders specialists is pivotal for early management.
Method: Here we present a case of a patient with a rare pediatric movement disorders.
Results: A 13-year-old boy with a complex medical history, including primary generalized epilepsy with seizure onset at 8 months of age, spastic quadriplegia, global developmental delay and intellectual disability, presented with paroxysmal choreoathetoid movements in the setting of influenza infection. Over his lifetime, he has had four severe episodes of abrupt onset of choreoathetoid movements induced by viral infections, typically Influenza. The latest episode was noted in August 2019 when he was found to be mycoplasma positive. His movements were severe enough to cause rhabdomyolysis and acute renal Injury, requiring pharmacological paralysis and intubation for further ventilator support. He was treated with a variety of medications, including short and long-acting benzodiazepines, alpha-agonists, monoamine-depleting agents like tetrabenazine, trihexyphenidyl, as well as antiepileptics. Although the patient first developed seizures at 8 months of age, periods of movement exacerbation were not accompanied by increase in seizure frequency, and he was well controlled in monotherapy with Levetiracetam. Prolonged EEG and MRI Brain were unremarkable, with no evidence of seizures or structural lesions. Further evaluation with whole-exome testing revealed a de novo heterozygous variant c.625C>T, p.Arg209Cys in the GNAO1 gene.
Conclusion: GNAO1 mutations are a rare and recently described condition, usually associated with developmental delay, epileptic encephalopathy and paroxysmal movement disorders. The clinical description and phenomenology of this movement disorder is not yet defined with very few cases report in the literature (less than 60 patients to our knowledge). Here we present a detailed video case of a patient with paroxysmal choreoathetosis with epilepsy and global developmental delay. Additionally, pediatric movement disorders is a relatively new and growing field of neurology, with increasing need for continuous research and clinical characterization. Early recognition of this condition by neurologists and movement disorders specialists is pivotal for early diagnosis and appropriate management.
To cite this abstract in AMA style:D. Di Luca, A. Milesi-Halle. A Young Patient with Paroxysmal Choreoathetosis [abstract]. Mov Disord. 2020; 35 (suppl 1). https://www.mdsabstracts.org/abstract/a-young-patient-with-paroxysmal-choreoathetosis/. Accessed December 1, 2023.
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