scholarly journals Septo-optic dysplasia plus: clinical presentation and magnetic resonance imaging findings

2010 ◽  
Vol 68 (2) ◽  
pp. 315-316 ◽  
Author(s):  
João Paulo K. Matushita Jr. ◽  
Chan Tiel ◽  
Raquel Ribeiro Batista ◽  
Marco Py ◽  
Emerson L. Gasparetto
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Clinical Presentation ◽  
Imaging Findings ◽  
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.

Computed tomography and magnetic resonance imaging findings of primary bladder angiosarcoma: a case report

2014 ◽  
Vol 38 (2) ◽  
pp. 212-214 ◽  
Author(s):  
Mehmet Beyazal ◽  
Necip Pirinççi ◽  
Alpaslan Yavuz ◽  
Sercan Özkaçmaz ◽  
Gülay Bulut
Keyword(s):  
Magnetic Resonance Imaging ◽  
Computed Tomography ◽  
Case Report ◽  
Magnetic Resonance ◽  
Imaging Findings ◽  
Resonance Imaging ◽  
Primary Bladder
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