Deep brain stimulation for pediatric pantothenate kinase-associated neurodegeneration with status dystonicus: A case report and literature review.

Autor: Zhai Z; Functional Neurosurgery Department, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China; Laboratory for Clinical Medicine, Capital Medical University, Beijing, China., Sun K; Functional Neurosurgery Department, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China; Laboratory for Clinical Medicine, Capital Medical University, Beijing, China., Liu T; Functional Neurosurgery Department, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China., Liang S; Functional Neurosurgery Department, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China; Laboratory for Clinical Medicine, Capital Medical University, Beijing, China., Ding C; Department of Neurology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China., Ren S; Department of Neurology, Beijing Children's Hospital Baoding Hospital, Capital Medical University, Baoding, China., Wei S; Department of Neurosurgery, Beijing Children's Hospital Baoding Hospital, Capital Medical University, Baoding, China., Zhai F; Functional Neurosurgery Department, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China; Laboratory for Clinical Medicine, Capital Medical University, Beijing, China. Electronic address: zhaif@ccmu.edu.cn., Zhang G; Functional Neurosurgery Department, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China; Laboratory for Clinical Medicine, Capital Medical University, Beijing, China. Electronic address: zgjxwyy@126.com.
Jazyk: angličtina
Zdroj: Clinical neurology and neurosurgery [Clin Neurol Neurosurg] 2024 Jun; Vol. 241, pp. 108306. Date of Electronic Publication: 2024 May 01.
DOI: 10.1016/j.clineuro.2024.108306
Abstrakt: Background: Pantothenate kinase-associated neurodegeneration (PKAN) is a type of inherited metabolic disorder caused by mutation in the PANK2 gene. The metabolic disorder mainly affects the basal ganglia region and eventually manifests as dystonia. For patients of dystonia, their dystonic symptom may progress to life-threatening emergency--status dystonicus.
Objective: We described a case of a child with PKAN who had developed status dystonicus and was successfully treated with deep brain stimulation (DBS). Based on this rare condition, we analysed the clinical features of PKAN with status dystonicus and reviewed the reasonable management process of this condition.
Conclusion: This case confirmed the rationality of choosing DBS for the treatment of status dystonicus. Meanwhile, we found that children with classic PKAN have a cluster of risk factors for developing status dystonicus. Once children diagnosed with similar neurodegenerative diseases are under status dystonicus, DBS can be active considered because it has showed high control rate of this emergent condition.
(Copyright © 2024 Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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