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- DOI 10.18231/j.ijpns.2025.014
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Atypical neurological decline in a teenager: A case of pantothenate kinase-associated neurodegeneration
Pantothenate Kinase-Associated Neurodegeneration (PKAN), formerly Hallervorden-Spatz disease, is a rare autosomal recessive neurodegenerative disorder characterized by progressive movement abnormalities and iron accumulation in the basal ganglia.
A 13-year-old male presented with a history of progressive gait disturbances, involuntary limb movements, and developmental regression. Imaging showed the pathognomonic "eye-of-the-tiger" sign in the globus pallidus. Supportive treatment was initiated.
This case demonstrates typical clinical and radiological findings of adolescent-onset PKAN. Early diagnosis can facilitate timely symptomatic intervention.
Keywords: Extrapyramidal sign, Hallervorden-Spatz disease, Dystonia, Dementia.
References
- Sakpichaisakul K, Saengow VE, Suwanpratheep P, Rongnoparat K, Panthan B, Trachoo O. Novel PANK2 mutation discovered among Southeast Asian children living in Thailand affected with pantothenate kinase-associated neurodegeneration. J Clin Neurosci. 2019;66:187–90.
- Marshall RD, Collins A, Escolar ML, Jinnah HA, Klopstock T, Kruer MC, et al. A scale to assess activities of daily living in pantothenate kinase-associated neurodegeneration. Mov Disord Clin Pract. 2019;6(2):139–49.
- Alvarez-Cordoba M, Villanueva-Paz M, Villalón-García I, Povea- Cabello S, Suárez-Rivero JM, et al. Precision medicine in pantothenate kinase-associated neurodegeneration. Neural Regen Res. 2019;14(7):1177–85.
- Chen X, Yu T, Luo R. Clinical characteristics and molecular pathogenesis of pantothenate kinase-associated neurodegenerative disease. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019;36(2):175–8.
- Zeng J, Xing W, Liao W, Wang X. MRI, susceptibility-weighted imaging and quantitative susceptibility mapping findings of PKAN. J Clin Neurosci. 2019;59:20–8.
- Neumann M, Adler S, Schlüter O, Kremmer E, Benecke R, Kretzschmar HA. Alpha-synuclein accumulation in NBIA-1 with widespread cortical and brainstem-type Lewy bodies. Acta Neuropathol. 2000;100(5):568–74.
- Schneider SA, Hardy J, Bhatia KP. Iron accumulation in NBIA 1 and 2: Causative or consequential? J Neurol Neurosurg Psychiatry. 2009;80(6):589–90.
- Jankovic J, Kirkpatrick JB, Blomquist KA, Langlais PJ, Bird ED. Late-onset Hallervorden-Spatz disease presenting as familial parkinsonism. Neurology. 1985;35(2):227–34.
- Tonekaboni SH, Mollamohammadi M. Neurodegeneration with Brain Iron Accumulation: An Overview. Iran J Child Neurol. 2014;8(4):1–8.
- Dashti M, Chitsaz A. Hallervorden-Spatz disease. Adv Biomed Res. 2014;3:191.
- Arber CE, Li A, Houlden H, Wray S. Insights into molecular mechanisms of disease in NBIA: unifying theories. Neuropathol Appl Neurobiol. 2016;42(3):220–41.
How to Cite This Article
Vancouver
Shah H, Bhavsar N, Mehta R, Bhandari A, Gorvadia N. Atypical neurological decline in a teenager: A case of pantothenate kinase-associated neurodegeneration [Internet]. J Paediatr Nurs Sci. 2025 [cited 2025 Oct 03];8(2):62-64. Available from: https://doi.org/10.18231/j.ijpns.2025.014
APA
Shah, H., Bhavsar, N., Mehta, R., Bhandari, A., Gorvadia, N. (2025). Atypical neurological decline in a teenager: A case of pantothenate kinase-associated neurodegeneration. J Paediatr Nurs Sci, 8(2), 62-64. https://doi.org/10.18231/j.ijpns.2025.014
MLA
Shah, Hardik, Bhavsar, Naiya, Mehta, Rajeshri, Bhandari, Ashok, Gorvadia, Nainesh. "Atypical neurological decline in a teenager: A case of pantothenate kinase-associated neurodegeneration." J Paediatr Nurs Sci, vol. 8, no. 2, 2025, pp. 62-64. https://doi.org/10.18231/j.ijpns.2025.014
Chicago
Shah, H., Bhavsar, N., Mehta, R., Bhandari, A., Gorvadia, N.. "Atypical neurological decline in a teenager: A case of pantothenate kinase-associated neurodegeneration." J Paediatr Nurs Sci 8, no. 2 (2025): 62-64. https://doi.org/10.18231/j.ijpns.2025.014