scholarly journals Sedation using 5% lidocaine patches, midazolam and propofol in a combative, obese adolescent with severe autistic disorder undergoing brain magnetic resonance imaging: a case report

2014 ◽  
Vol 67 (6) ◽  
pp. 421 ◽  
Author(s):  
Kwon Hui Seo ◽  
Hong Soo Jung ◽  
Eu Gene Kang ◽  
Change Jae Kim ◽  
Ho Young Rhee ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Case Report ◽  
Magnetic Resonance ◽  
Autistic Disorder ◽  
Brain Magnetic Resonance Imaging ◽  
Resonance Imaging ◽  
Obese Adolescent

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.

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