Pantothenate Kinase-Associated Neurodegeneration (PKAN) With Concomitant Blepharospasm: Unveiling a Clinical Enigma.
blepharospasm
case report
diagnosis of pkan
vitamin b5
young male
Journal
Cureus
ISSN: 2168-8184
Titre abrégé: Cureus
Pays: United States
ID NLM: 101596737
Informations de publication
Date de publication:
Oct 2023
Oct 2023
Historique:
received:
08
09
2023
accepted:
08
10
2023
medline:
9
11
2023
pubmed:
9
11
2023
entrez:
9
11
2023
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 37942365
doi: 10.7759/cureus.46665
pmc: PMC10629615
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e46665Informations de copyright
Copyright © 2023, Reddy et al.
Déclaration de conflit d'intérêts
The authors have declared that no competing interests exist.
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