Pantothenate Kinase Deficiency Related Neurodegeneration (PKAN) – An Ultra Rare Inherited Metabolic Disorder

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Published: Jun 23, 2023
Keywords:
Pantothenate Kinase Deficiency Related Neurodegeneration, Eye of tiger sign, NBIA, Neurodegeneration with brain iron accumulation, PANK, PANK2 Gene

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Mahnoor Saeed
Department of Pediatrics, Azra Naheed Medical College, Lahore, Pakistan.
Muhammad Saeed
Department of Pediatrics, Armed Forces Hospital, Southern Region, KSA.
Ali Maqbool
Department of Pediatrics, Aga Khan Medical College, Karachi, Pakistan.
Badriah G. Alasmari
Department of Pediatrics, Azra Naheed Medical College, Lahore, Pakistan.
Ali Mujtaba Tahir
Department of Pediatrics, Azra Naheed Medical College, Lahore, Pakistan.

Abstract

Pantothenate Kinase-related Neurodegeneration (PKAN) is an Autosomal Recessive (AR) inherited disease identified by focal iron accumulation in the basal ganglia. Formerly recognized as Hallervorden-Spatz disease. PKAN is now considered to be one of several diseases that clinically presents with Neurodegeneration due to deposition of iron in brain (NBIA). Here, we describe an eleven-year-old boy identified as typical PKAN.

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How to Cite
1.
Saeed M, Saeed M, Maqbool A, Alasmari BG, Tahir AM. Pantothenate Kinase Deficiency Related Neurodegeneration (PKAN) – An Ultra Rare Inherited Metabolic Disorder. Nat J Health Sci [Internet]. 2023Jun.23 [cited 2024Dec.9];8(2):85-7. Available from: https://ojs.njhsciences.com/index.php/njhs/article/view/402
Issue
Vol. 8 No. 2 (2023)
Section
Case Report

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