Nigropallidal iron accumulation in pantothenate kinase-associated neurodegeneration demonstrated by susceptibility-weighted imaging

Excerpt

Neurodegeneration with brain iron accumulation (NBIA, formerly known as Hallervorden-Spatz syndrome) defines a group of genetic disorders characterized by brain iron deposition. The major form of NBIA is pantothenate-kinase associated neurodegeneration, or PKAN, caused by mutations in the PANK2 gene [1, 2]. The other known causes of NBIA include neuroferritinopathy, infantile neuroaxonal dystrophy, and aceruloplasminemia [2, 3]. Because of extensive phenotypic overlap, the clinical diagnosis of different subtypes of NBIA can be challenging, particularly in the early stages [2, 3]. Previous MRI studies with an emphasis on T2-weighted imaging (T2WI) demonstrated a central region of hyperintensity in the globus pallidus with surrounding hypointensity, called an eye-of-the-tiger sign [1, 2]. Newer MR imaging technologies, susceptibility-weighted imaging (SWI), has been shown to be superior in its ability to demonstrate brain iron deposition than other conventional MR imaging [4]. We report herein SWI findings in a patient with PKAN2 gene mutation to characterize the patterns of iron deposition in this disorder. …