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Pantothenate Kinase-Associated Neurodegeneration (PKAN) With Concomitant Blepharospasm: Unveiling a Clinical Enigma
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare and complex neurodegenerative disorder. It occurs due to mutations in the sequencing of the PANK2 gene. Here, we describe the case of a 22-year-old male patient who presented with severe blepharospasm; he had abnormal facial distortio...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10629615/ https://www.ncbi.nlm.nih.gov/pubmed/37942365 http://dx.doi.org/10.7759/cureus.46665 |
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author | Reddy, Venkat Saboo, Keyur Reddy, Kavyanjali Kumar, Sunil Acharya, Sourya |
author_facet | Reddy, Venkat Saboo, Keyur Reddy, Kavyanjali Kumar, Sunil Acharya, Sourya |
author_sort | Reddy, Venkat |
collection | PubMed |
description | Pantothenate kinase-associated neurodegeneration (PKAN) is a rare and complex neurodegenerative disorder. It occurs due to mutations in the sequencing of the PANK2 gene. Here, we describe the case of a 22-year-old male patient who presented with severe blepharospasm; he had abnormal facial distortions, shaky limbs, rigid muscles, and a slow pace of movement, making a diagnosis tricky. Accumulation of iron in excessive amounts in the basal ganglia, a part of the brain that governs movement, is linked to PKAN. In this case, the "eye of the tiger" indication, a distinctive pattern only seen by MRI, supported PKAN. The anticholinergic medications helped him alleviate his symptoms to some extent, but he still had some degree of impairment. This instance emphasizes the mysterious character of PKAN and the significance of keeping an eye out for unusual symptoms in neurodegenerative conditions. This case report emphasizes the significance of recognizing unexpected effects that brain disorders can have on people's lives and calls for increased clinician awareness and understanding. |
format | Online Article Text |
id | pubmed-10629615 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-106296152023-11-08 Pantothenate Kinase-Associated Neurodegeneration (PKAN) With Concomitant Blepharospasm: Unveiling a Clinical Enigma Reddy, Venkat Saboo, Keyur Reddy, Kavyanjali Kumar, Sunil Acharya, Sourya Cureus Neurology Pantothenate kinase-associated neurodegeneration (PKAN) is a rare and complex neurodegenerative disorder. It occurs due to mutations in the sequencing of the PANK2 gene. Here, we describe the case of a 22-year-old male patient who presented with severe blepharospasm; he had abnormal facial distortions, shaky limbs, rigid muscles, and a slow pace of movement, making a diagnosis tricky. Accumulation of iron in excessive amounts in the basal ganglia, a part of the brain that governs movement, is linked to PKAN. In this case, the "eye of the tiger" indication, a distinctive pattern only seen by MRI, supported PKAN. The anticholinergic medications helped him alleviate his symptoms to some extent, but he still had some degree of impairment. This instance emphasizes the mysterious character of PKAN and the significance of keeping an eye out for unusual symptoms in neurodegenerative conditions. This case report emphasizes the significance of recognizing unexpected effects that brain disorders can have on people's lives and calls for increased clinician awareness and understanding. Cureus 2023-10-08 /pmc/articles/PMC10629615/ /pubmed/37942365 http://dx.doi.org/10.7759/cureus.46665 Text en Copyright © 2023, Reddy et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Neurology Reddy, Venkat Saboo, Keyur Reddy, Kavyanjali Kumar, Sunil Acharya, Sourya Pantothenate Kinase-Associated Neurodegeneration (PKAN) With Concomitant Blepharospasm: Unveiling a Clinical Enigma |
title | Pantothenate Kinase-Associated Neurodegeneration (PKAN) With Concomitant Blepharospasm: Unveiling a Clinical Enigma |
title_full | Pantothenate Kinase-Associated Neurodegeneration (PKAN) With Concomitant Blepharospasm: Unveiling a Clinical Enigma |
title_fullStr | Pantothenate Kinase-Associated Neurodegeneration (PKAN) With Concomitant Blepharospasm: Unveiling a Clinical Enigma |
title_full_unstemmed | Pantothenate Kinase-Associated Neurodegeneration (PKAN) With Concomitant Blepharospasm: Unveiling a Clinical Enigma |
title_short | Pantothenate Kinase-Associated Neurodegeneration (PKAN) With Concomitant Blepharospasm: Unveiling a Clinical Enigma |
title_sort | pantothenate kinase-associated neurodegeneration (pkan) with concomitant blepharospasm: unveiling a clinical enigma |
topic | Neurology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10629615/ https://www.ncbi.nlm.nih.gov/pubmed/37942365 http://dx.doi.org/10.7759/cureus.46665 |
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