Treatment of Pantothenate-Kinase Neurodegeneration With Baclofen, Botulinum Toxin, and Deferiprone: A Case Report.
Genes
Movement Disorder
Muscle Rigidity
Neurodegeneration with Brain Iron Accumulation (NBIA)
Pantothenate Kinase-Associated Neurodegeneration
Journal
Brain & NeuroRehabilitation
ISSN: 2383-9910
Titre abrégé: Brain Neurorehabil
Pays: Korea (South)
ID NLM: 101769810
Informations de publication
Date de publication:
Nov 2023
Nov 2023
Historique:
received:
25
02
2023
revised:
18
07
2023
accepted:
11
08
2023
medline:
4
12
2023
pubmed:
4
12
2023
entrez:
4
12
2023
Statut:
epublish
Résumé
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive disorder characterized by progressive motor symptoms, such as dystonia and spasticity. Classical PKAN is the most common subtype of neurodegeneration with brain iron accumulation (NBIA). Currently, there is no established treatment for PKAN. However, baclofen and botulinum toxin have been reported to improve motor symptoms and ease care in these patients. Additionally, Deferiprone is a well-tolerated iron chelator that has been shown to be effective in reducing brain iron accumulation. In this case report, we present the case of a seven-year-old boy who presented to our ward with spastic gait and extrapyramidal signs. Brain magnetic resonance imaging was performed, which showed features of neurodegeneration secondary to brain iron accumulation with a specific appearance of the eye-of-the-tiger sign. Genetic testing was positive for a homozygous mutation in PANK2, and the diagnosis of early-stage classical PKAN was made. This case report highlights the potent efficacy of baclofen, botulinum toxin, and deferiprone in slowing down the disease progression at an early stage and improving the severity of symptoms.
Identifiants
pubmed: 38047104
doi: 10.12786/bn.2023.16.e25
pmc: PMC10689866
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e25Informations de copyright
Copyright © 2023. Korean Society for Neurorehabilitation.
Déclaration de conflit d'intérêts
Conflict of Interest: The authors have no potential conflicts of interest to disclose.
Références
Mov Disord Clin Pract. 2022 Jun 23;9(5):693-695
pubmed: 35844290
J Mov Disord. 2015 Jan;8(1):1-13
pubmed: 25614780
J Neurosurg. 1999 Mar;90(3):551-4
pubmed: 10067928
Mutat Res. 2000 Mar 14;448(1):97-104
pubmed: 10751627
Neurol Sci. 2018 Oct;39(10):1797-1800
pubmed: 29926305
J Neurol Neurosurg Psychiatry. 2009 Jun;80(6):589-90
pubmed: 19147629
Lancet Neurol. 2019 Jul;18(7):631-642
pubmed: 31202468
Eur Neurol. 2001;45(4):287-8
pubmed: 11385272
N Engl J Med. 2003 Jan 2;348(1):33-40
pubmed: 12510040
Dev Med Child Neurol. 2002 Dec;44(12):849-51
pubmed: 12455862
Case Rep Neurol Med. 2013;2013:860201
pubmed: 23634310
Mol Genet Metab. 2022 Nov;137(3):283-291
pubmed: 36240582
Bioorg Med Chem. 2021 Jul 15;42:116243
pubmed: 34126284
Neurosurgery. 1996 May;38(5):934-8; discussion 938-9
pubmed: 8727818
Orphanet J Rare Dis. 2020 Jan 29;15(1):31
pubmed: 31996241
Mol Neurobiol. 2019 May;56(5):3638-3656
pubmed: 30173408
Am J Med Genet A. 2018 Jun;176(6):1375-1388
pubmed: 29696803
Arch Neurol. 1996 Dec;53(12):1241-6
pubmed: 8970452