Radiological manifestation of familial acute necrotizing encephalopathy with RANBP2 mutation in a Far-East Asian family: Case report.
Yu-Jung ParkJae Yeon HwangYong-Woo KimYun-Jin LeeAra KoPublished in: Medicine (2021)
These cases highlight the radiological aspects of familial ANE with incomplete penetrance of the RANBP2 gene in 3 family members, showing variable involvements of the brain and natural history on magnetic resonance images. Radiologists should be aware of the typical and atypical imaging findings of familial ANE for prompt management of affected patients.
Keyphrases
- early onset
- magnetic resonance
- case report
- end stage renal disease
- ejection fraction
- newly diagnosed
- chronic kidney disease
- high resolution
- liver failure
- peritoneal dialysis
- deep learning
- prognostic factors
- white matter
- optical coherence tomography
- multiple sclerosis
- intensive care unit
- resting state
- transcription factor
- drug induced
- dna methylation