BCAS3 ‐Related Neurodevelopmental Disorder Shows Magnetic Resonance Imaging Features Resembling Brain Iron Accumulation

2022 ◽  
Author(s):  
Wui‐Kwan Wong ◽  
Christopher Troedson ◽  
Markus Damme ◽  
Robert Goetti ◽  
Suzanna E.L. Temple ◽  
...  
2014 ◽  
Vol 2014 ◽  
pp. 1-2 ◽  
Author(s):  
Peter Johnson ◽  
Roxanne Melbourne-Chambers ◽  
Nilesh Desai ◽  
Emma Greenaway

We present a case of an eleven-year-old boy presenting with progressive extrapyramidal signs and dementia. His imaging findings demonstrated the classic eye-of-the-tiger sign on T2W magnetic resonance imaging. He was diagnosed with pantothenate kinase-associated neurodegeneration (PKAN). This is a rare autosomal recessive inborn error of coenzyme A metabolism, caused by mutations inPANK2. This is the first reported case of PKAN from the Caribbean.


Author(s):  
Prajnya Ranganath ◽  
Mallikarjun Patil

AbstractThe “eye-of-the-tiger” sign in brain magnetic resonance imaging (MRI) is typically associated with neurodegeneration with brain iron accumulation disorders, especially pantothenate kinase-associated neurodegeneration. However, very similar neuroimaging findings may be seen in other neurodegenerative disorders involving the basal ganglia. We report here a patient with fucosidosis who had MRI brain findings closely resembling the “eye-of-the-tiger” sign.


2012 ◽  
Vol 12 (5) ◽  
pp. 331-339 ◽  
Author(s):  
Melania Costantini ◽  
Paolo Belli ◽  
Daniela Distefano ◽  
Enida Bufi ◽  
Marialuisa Di Matteo ◽  
...  

2014 ◽  
Vol 81 (5) ◽  
pp. 313-319 ◽  
Author(s):  
Yasuyuki Kitagawa ◽  
Masabumi Miyamoto ◽  
Shunsuke Konno ◽  
Akira Makino ◽  
Go Maruyama ◽  
...  

Sign in / Sign up

Export Citation Format

Share Document