Nbia-neurodegeneration with Brain Iron Accumulation: A Rare Case Report with Review of Literature
Gauri Chauhan *
M.M Institute of Medical Sciences, Mullana, Ambala, Haryana, 133207, India
A. K. Bhardwaj
M.M Institute of Medical Sciences, Mullana, Ambala, Haryana, 133207, India
Inderpreet Santok
M.M Institute of Medical Sciences, Mullana, Ambala, Haryana, 133207, India
Aarti Sareen
M.M Institute of Medical Sciences, Mullana, Ambala, Haryana, 133207, India
*Author to whom correspondence should be addressed.
Abstract
NBIA (Neurodegeneration with Brain Iron Accumulation) is a rare disorder with varied age group of presentation but mostly detected in childhood. It is a progressive disease with basic extra-pyramidal symptoms and an autosomal recessive nature. The incidence is found to be very low depending on the various subtypes in this group, most common being PKAN (Pantothenate Kinase Associated Neurodegeneration). We here highlight a case of a 16 years old male, radiologically proven as NBIA and currently on regular follow up at our institute.
Keywords: Autosomal recessive, MRI, NBIA, PKAN