Literature DB >> 26602591

"Eye of tiger sign" mimic in an adolescent boy with mitochondrial membrane protein associated neurodegeneration (MPAN).

Sangeetha Yoganathan1, Sniya Valsa Sudhakar2, Maya Thomas3, Atanu Kumar Dutta4, Sumita Danda4.   

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.
Copyright © 2015 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Entities:  

Keywords:  Brain iron accumulation; Eye of tiger sign; Neurodegeneration

Mesh:

Substances:

Year:  2015        PMID: 26602591     DOI: 10.1016/j.braindev.2015.10.017

Source DB:  PubMed          Journal:  Brain Dev        ISSN: 0387-7604            Impact factor:   1.961


  6 in total

1.  Mitochondrial Membrane Protein Associated Neurodegeneration   (MPAN) with a Novel C19orf12 Mutation in the First Decade of Life.

Authors:  Vykuntaraju K Gowda; Arundhati Patil; Varunvenkat M Srinivasan; Nihar Kathrani
Journal:  Indian J Pediatr       Date:  2019-03-02       Impact factor: 1.967

2.  A new NBIA patient from Turkey with homozygous C19ORF12 mutation.

Authors:  Çiğdem Seher Kasapkara; Leyla Tümer; Allison Gregory; Fatih Ezgü; Aslı İnci; Betül Emine Derinkuyu; Rachel Fox; Caleb Rogers; Susan Hayflick
Journal:  Acta Neurol Belg       Date:  2018-10-08       Impact factor: 2.396

3.  Pantothenate kinase-associated neurodegeneration: Clinical aspects, diagnosis and treatments.

Authors:  Saeed Razmeh; Amir Hassan Habibi; Maryam Orooji; Elham Alizadeh; Karim Moradiankokhdan; Behroz Razmeh
Journal:  Neurol Int       Date:  2018-04-04

4.  Genotype-Phenotype Correlations in MPAN Due to C19orf12 Variants.

Authors:  Josef Finsterer
Journal:  Ann Indian Acad Neurol       Date:  2020-07-24       Impact factor: 1.383

Review 5.  An Updated Overview of the Magnetic Resonance Imaging of Brain Iron in Movement Disorders.

Authors:  Nicola Tambasco; Pasquale Nigro; Andrea Chiappiniello; Federico Paolini Paoletti; Sara Scialpi; Simone Simoni; Pietro Chiarini; Lucilla Parnetti
Journal:  Behav Neurol       Date:  2022-02-24       Impact factor: 3.342

Review 6.  Brain MRI Pattern Recognition in Neurodegeneration With Brain Iron Accumulation.

Authors:  Jae-Hyeok Lee; Ji Young Yun; Allison Gregory; Penelope Hogarth; Susan J Hayflick
Journal:  Front Neurol       Date:  2020-09-10       Impact factor: 4.003

  6 in total

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