Objective: We report a case of atypical PKAN expressed in late adulthood with a typical radiologic finding and genetic confirmation.
Background: Pantothenate-kinase-associated neurodegeneration (PKAN) is a rare genetic disease with brain iron accumulation. PKAN is commonly characterized by early-childhood onset, but it should be considered in the differential diagnosis of patients at any age with an atypical progressive extrapyramidal disorder such as dystonia.
Method: A 58-year-old man presented with an involuntary movement of the face and neck three months ago. His initial symptom was lower facial, bilateral platysma and truncal dystonia. There was a family history of his sister who underwent DBS for cervical dystonia.
Results: Brain MRI revealed bilateral typical so-called ‘eye of tiger’ appearances in both globus pallidus. Genetic testing confirmed the PANK2 mutation. Treatment with trihexyphenidyl, and clonazepam slightly improved the dystonia.
Conclusion: PKAN should be considered in adult patients with progressive dystonia and a family history. As PKAN shows characteristic MRI findings, the gene test should be performed if signs of iron accumulation in the brain MRI.
To cite this abstract in AMA style:
S. Park. Case report of atypical PKAN expressed in late sixth-decade [abstract]. Mov Disord. 2023; 38 (suppl 1). https://www.mdsabstracts.org/abstract/case-report-of-atypical-pkan-expressed-in-late-sixth-decade/. Accessed November 23, 2024.« Back to 2023 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/case-report-of-atypical-pkan-expressed-in-late-sixth-decade/