Treatment of Pantothenate-Kinase Neurodegeneration With Baclofen, Botulinum Toxin, and Deferiprone: A Case Report
0
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
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.
Abstract
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.
참고문헌 (20)
- Álvarez-Córdoba M, "Pantothenate rescues iron accumulation in pantothenate kinase-associated neurodegeneration depending on the type of mutation", Mol Neurobiol, 56, pp.3638~3656 (2019)
- Schneider SA, "Iron accumulation in syndromes of neurodegeneration with brain iron accumulation 1 and 2 : causative or consequential?", J Neurol Neurosurg Psychiatry, 80, pp.589~590 (2009)
- Hayflick SJ, "Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome", N Engl J Med, 348, pp.33~40 (2003)
- Hogarth P, "Neurodegeneration with brain iron accumulation : diagnosis and management", J Mov Disord, 8, pp.1~13 (2015)
- Gregory A, "GeneReviews®" (2002), University of Washington
- Ford B, "Use of intrathecal baclofen in the treatment of patients with dystonia", Arch Neurol, 53, pp.1241~1246 (1996)
- Dressler D, "Botulinum toxin for treatment of jaw opening dystonia in Hallervorden-Spatz syndrome", Eur Neurol, 45, pp.287~288 (2001)
- Klopstock T, "Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration : a randomised, double-blind, controlled trial and an open-label extension study", Lancet Neurol, 18, pp.631~642 (2019)
- Yoon SJ, "Copper, zinc superoxide dismutase enhances DNA damage and mutagenicity induced by cysteine", iron, 2000, pp.448, 97~104
- Hayflick SJ, "PKAN pathogenesis and treatment", Mol Genet Metab, 137, pp.283~291 (2022)
- Diaz N, "Late onset atypical pantothenate-kinase-associated neurodegeneration", Case Rep Neurol Med, 2013, pp.860201~ (2013)
- Rohani M, "Pantothenate kinase-associated neurodegeneration mimicking Tourette syndrome : a case report and review of the literature", Neurol Sci, 39, pp.1797~1800 (2018)
- Dehghan Manshadi M, "A case of MPAN with"Eye of the Tiger Sign, "mimicking PKAN", Mov Disord Clin Pract(Hoboken), 9, pp.693~695 (2022)
- Feriante J, "Neuroacanthocytosis" (2023), StatPearls Publishing
- Neri G, "X-linked intellectual disability update 2017", Am J Med Genet A, 176, pp.1375~1388 (2018)
- Prabhu SK, "Comparative studies on the substrate specificity and defucosylation activity of three α-l-fucosidases using synthetic fucosylated glycopeptides and glycoproteins as substrates", Bioorg Med Chem, 42, pp.116243~ (2021)
- Schubert Baldo M, "Molecular basis of Leigh syndrome : a current look", Orphanet J Rare Dis, 15, pp.31~ (2020)
- Gordon N, "Infantile neuroaxonal dystrophy(Seitelberger’s disease)", Dev Med Child Neurol, 44, pp.849~851 (2002)
- Albright AL, "Continuous intrathecal baclofen infusion for symptomatic generalized dystonia", Neurosurgery, 38, pp.934~938 (1996)
- Justesen CR, "Stereotactic pallidotomy in a child with Hallervorden-Spatz disease. Case report", J Neurosurg, 90, pp.551~554 (1999)