title: "Eye of tiger sign" mimic in an adolescent boy with mitochondrial membrane protein associated neurodegeneration (MPAN).
abstract: Neurodegeneration with brain iron accumulation (NBIA) refers to an inherited heterogeneous group of disorders pathologically characterized by focal brain iron deposition. Clinical phenotype, imaging findings and genotype are variable among the different types of this disorder. In this case report, we describe the imaging finding of an adolescent boy with mitochondrial membrane protein associated neurodegeneration (MPAN), a subentity of NBIA. Magnetic resonance imaging of brain revealed hypointensity of globi pallidi with medial medullary lamina appearing as a hyperintense streak in T2 weighted images. Mild cerebellar atrophy in T2 weighted images and blooming of substantia nigra and globi pallidi in susceptibility weighted images were also observed. Imaging findings in patients with MPAN mimics the eye of tiger appearance in patients with pantothenate kinase associated neurodegeneration. Classical phenotype and eye of tiger sign mimic in imaging of patients with NBIA should raise the suspect for MPAN. Genetic studies helps in the confirmation of diagnosis of this neurodegenerative disorder.
authors.affiliation: Department of Neurological Sciences, Christian Medical College, Vellore, India.
authors.forename: Sangeetha
authors.initials: S
authors.lastname: Yoganathan
authors.affiliation: Department of Radiodiagnosis, Christian Medical College, Vellore, India.
authors.forename: Sniya Valsa
authors.initials: SV
authors.lastname: Sudhakar
authors.affiliation: Department of Neurological Sciences, Christian Medical College, Vellore, India. Electronic address: maya@cmcvellore.ac.in.
authors.forename: Maya
authors.initials: M
authors.lastname: Thomas
authors.affiliation: Department of Medical Genetics, Christian Medical College, Vellore, India.
authors.forename: Atanu Kumar
authors.initials: AK
authors.lastname: Dutta
authors.affiliation: Department of Medical Genetics, Christian Medical College, Vellore, India.
authors.forename: Sumita
authors.initials: S
authors.lastname: Danda
mesh_terms: D000293:Adolescent; D001921:Brain / Q000378:metabolism / Q000473:pathology; D005917:Globus Pallidus / Q000473:pathology; D006801:Humans; D007501:Iron / Q000378:metabolism / Q000633:toxicity; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D051336:Mitochondrial Membranes / Q000502:physiology*; D019636:Neurodegenerative Diseases / Q000473:pathology*; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000235:genetics / Q000503:physiopathology; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000378:metabolism; D013378:Substantia Nigra / Q000473:pathology
chemical_list: D007501:Iron; D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase
keywords: Brain iron accumulation; Eye of tiger sign; Neurodegeneration