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

Authors

  • 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.

Keywords:

Pantothenate Kinase Deficiency Related Neurodegeneration, Eye of tiger sign, NBIA, Neurodegeneration with brain iron accumulation, PANK, PANK2 Gene

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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Published

2023-06-23

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 2024Apr.28];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