Pantothenate kinase-associated neurodegeneration (PKAN) a rare neurodegenerative disease-Two case reports

Authors

  • Gopen Kumar Kundu Chairman, Department of Pediatric Neurology, Bangabandhu Sheikh Mujib Medical University, Shahbagh, Dhaka, Bangladesh
  • Konica Das Resident, Department of Pediatric Neurology, Bangabandhu sheikh Mujib Medical University, Dhaka, Bangladesh
  • Noor A Sabah FCPS student, Department of Pediatric Neurology, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh
  • Meher Nigar Nishi Resident, Department of Pediatric Neurology, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh
  • Mohammad Arbab Sarker Resident Department of Pediatric Neurology, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh
  • Sanjida Ahmed Consultant, Department of Pediatric Neurology, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh

DOI:

https://doi.org/10.3329/jbcps.v42i2.72390

Keywords:

Pantothenate kinase, PKAN Disease

Abstract

Neurodegeneration with brain iron accumulation (NBIA) is a subtype of inherited metabolic disorders. It includes pantothenate kinase-associated neurodegeneration (PKAN), which is a rare autosomal recessive disorder caused by the mutation of pantothenate kinase 2-gene (PANK2). It affects the deep grey matter nuclei causing progressive extra pyramidal motor impairment. We present two cases who are presented in our department with walking difficulty, dystonia and dysarthria. MRI of brain (T2) showed- hyper intensity of the basal ganglia with the classic eye-of-the-tiger sign and one child's genetic study revealed mutation in PANK2 gene. We managed them with anti dystonic drugs along with iron chelating agent.

J Bangladesh Coll Phys Surg 2024; 42: 209-213

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Published

2024-04-30

How to Cite

Kundu, G. K. ., Das, K. ., Sabah, N. A., Nishi, M. N., Sarker, M. A. ., & Ahmed, S. . (2024). Pantothenate kinase-associated neurodegeneration (PKAN) a rare neurodegenerative disease-Two case reports. Journal of Bangladesh College of Physicians and Surgeons, 42(2), 209–213. https://doi.org/10.3329/jbcps.v42i2.72390

Issue

Vol. 42 No. 2 (2024)

Section

Case Reports

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