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Year :2020
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Month :
January-February
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Volume :
9
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Issue :
1
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Page :
RC03 - RC05
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Pantothenate Kinase-Associated Neurodegeneration- Rare form of Neurodegeneration with Brain Iron Accumulation
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Correspondence Address :
Anitha Kini, A Sowmya, GU Pravin,
Dr. A Sowmya,
Department of Radiodiagnosis, Rajarajeswari Medical College and Hospital, Bengaluru, Karnataka, India.
E-mail: sowmydr.sweety@gmail.com
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Introduction: Pantothenate Kinase-Associated Neurodegeneration (PKAN), a rare autosomal recessive disorder is mainly caused by mutation in the PANK2 gene. PKAN is included in a group of disorders known as Neurodegeneration with Brain Iron Accumulation (NBIA).Magnetic Resonance Imaging (MRI) of brain demonstrates the pathognomonic appearance of “Eye of Tiger” appearance in the Globus Pallidus, which is due to abnormal brain iron accumulation. We present a rare case of PKAN with recurrent falls, development delay with bilateral retinitis pigmentosa and normal laboratory investigation. Similar complaints were present in one of the sibling who died of the illness.
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