Effect of liver transplantation on brain magnetic resonance imaging pathology in Wilson disease: a case report

2013 ◽  
Vol 47 (4) ◽  
pp. 393-397 ◽  
Author(s):  
Tomasz Litwin ◽  
Karolina Dzieżyc ◽  
Renata Poniatowska ◽  
Anna Członkowska
Keyword(s):  
Magnetic Resonance Imaging ◽  
Liver Transplantation ◽  
Case Report ◽  
Magnetic Resonance ◽  
Wilson Disease ◽  
Brain Magnetic Resonance Imaging ◽  
Resonance Imaging

scholarly journals POLR3-related Leukodystrophy

2019 ◽  
Vol 9 ◽  
pp. 45
Author(s):  
Aby Thomas ◽  
Anna Kalathil Thomas
Keyword(s):  
Magnetic Resonance Imaging ◽  
Case Report ◽  
Magnetic Resonance ◽  
Clinical Presentation ◽  
Brain Magnetic Resonance Imaging ◽  
Imaging Features ◽  
Imaging Findings ◽  
Resonance Imaging ◽  
Pathogenic Mutations ◽  
Pol Iii

Pol III-related leukodystrophy is a recently recognized category of leukodystrophy with characteristic clinical presentation and imaging findings. These cases are diagnosed by the combination of typical clinical presentation, brain magnetic resonance imaging findings, and the presence of biallelic pathogenic mutations in three specific genes. We present the case of a 6-year-old girl who demonstrated the classic clinical and imaging features of this disorder. This case report aims to raise awareness of this disorder so that it is easily recognized in the appropriate setting.

Sign in / Sign up

Export Citation Format

Share Document