A Case Report on Pantothenate Kinase -Associated Neurodegeneration [PKAN]
Description
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.
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IJISRT23JAN1410.pdf
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