LOẠN TRƯƠNG LỰC CƠ ĐÁP ỨNG DOPA: BÁO CÁO TRƯỜNG HỢP LÂM SÀNG KHỞI PHÁT SỚM Ở TRẺ NHỎ VÀ TỔNG QUAN Y VĂN

Abstract

Objective: To describe the clinical features, paraclinical findings, and disease progression of a case of early-onset dopa-responsive dystonia managed at the Department of Neurology, Children's Hospital 2. Subjects and Methods: Case report and literature review. Results: An 8-year-old female presented with symptom onset at 6 months of age, including hand tremors, toe walking, limb rigidity, and diurnal fluctuation. There were no sphincter or sleep disturbances. The patient exhibited mild psychomotor developmental delay. Genetic analysis revealed a heterozygous frameshift mutation in the GCH1 gene on chromosome 14. A maternal half-aunt was reported to have similar symptoms diagnosed at age 10. Initiation of low-dose levodopa/benserazide therapy at age 3 resulted in significant improvement in motor function, although learning difficulties persisted. Conclusion: Early identification and appropriate treatment of DRD can significantly improve functional outcomes and enable affected children to achieve near-normal daily functioning.