A Case Report on Pantothenate Kinase -Associated Neurodegeneration [PKAN]


Authors : Kyatham Madhulatha; Dr. Sandeep Madineni; Dr. G.Rama Krishna Reddy; Dr. K.Venkat Ram Reddy

Volume/Issue : Volume 8 - 2023, Issue 1 - January

Google Scholar : https://bit.ly/3IIfn9N

Scribd : https://bit.ly/3xd88mT

DOI : https://doi.org/10.5281/zenodo.7628721

Pantothenate kinase- associated neurodegeneration (PKAN), formerly known as Hallervorden-Spatz syndrome, is a rare inherited autosomal recessive disorder. It is a neurological movement disorder, is mainly caused by mutation in the PKAN2 gene. PKAN is the most common type of neurodegeneration with brain iron accumulation (NBIA).On magnetic resonance imaging (MRI) of brain, demonstrates eye-of-the-tiger” sign in the globus pallidus ,which is due to abnormal iron accumulation. We present a case of a male child with PKAN presented with delayed milestones predominantly language, abnormal movements of upper limbs, gait disturbances, intellectual decline. Similar complaints were present in his elder sister and she was proven case of pantothenate kinase 2 [PKAN2] gene mutation. Abbreviations: PKAN-Pantothenate kinase associated neurodegeneration; NBIA-Neurodegeneration with Brain Iron Accumulation; MRI- Magnetic Resonance Imaging.

Keywords : Hallervorden-Spatz syndrome, Eye of tiger appearance, Dystonia, Neurodegeneration, PKAN, dystonia, dementia.

CALL FOR PAPERS


Paper Submission Last Date
29 - February - 2024

Paper Review Notification
In 1-2 Days

Paper Publishing
In 2-3 Days

Video Explanation for Published paper

Never miss an update from Papermashup

Get notified about the latest tutorials and downloads.

Subscribe by Email

Get alerts directly into your inbox after each post and stay updated.
Subscribe
OR

Subscribe by RSS

Add our RSS to your feedreader to get regular updates from us.
Subscribe