Neurodegenerative Brain Iron Accumulation Disorder
Journal Title: International Journal of Contemporary Medical Research - Year 2017, Vol 4, Issue 2
Abstract
Introduction: We report two cases of Pentothenate KinaseAssociated Neurodegeneration (PKAN) which is a rare autosomal recessive neurodegenerative disorder with prevalence of 1 to 3 /1,000,000 having equal predisposition in both males and females characterized by rapidly progressive extrapyramidal symptoms, retinal degeneration and iron accumulation in basal ganglia. The MRI showing “eye of the tiger” sign is a characteristic diagnostic finding. This is one of the ten subtypes of Neurodegeneration With Brain Iron Accumulation (NBIA) disorder. Case report: We are reporting two cases, one is a 10 year old named Jyoti and another is 9 yr old named Mamta who came with complaints of progressive dystonias, and diagnosed as rare neurodegenerative disorder PKAN. Conclusion: We report these cases because of their rarity and how we can differentiate the NBIA subtypes by combining clinical and neuroimaging features. Treatment is only symptomatic, Deep brain stimulation therapy is a newer treatment modality with better outcomes
Authors and Affiliations
Gupta Anju Darshan Kumar, Simran K. Gill, Arvinder Singh, Karnail Singh
Keywords
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