Journal
BRAIN & DEVELOPMENT
Volume 38, Issue 10, Pages 937-942Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.braindev.2016.05.007
Keywords
Thalamic hyperintensities; Gamma globulin; Dexamethasone; Chromosome 2q11-13; OMIM 601181
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Background: Acute necrotizing encephalopathy (ANE) is a rare disorder characterized by encephalopathy following a febrile illness, mostly viral. Most cases are sporadic; however, recurrent and familial cases have been linked to RANBP2 mutation. Description of the case: This is a description of a three and half years old girl with recurrent ANE with RANBP2 mutation (c.1754 C > T (p.T585M)). She had two episodes of encephalopathy, each following a short non-specific febrile illness. Neuroradiologically, she had typical findings involving bilateral thalami during the first episode and involving bilateral temporal and occipital lobes, bilateral cerebellar hemispheres and brainstem during the second episode. She was managed with intravenous gamma globulin and dexamethasone during both the episodes. She recovered significantly with residual deficits in her cognitive and language domains. Conclusions: In relevant clinic-radiological scenarios both isolated and recurrent ANE should be considered because of treatment and long-term outcome related implications. (C) 2016 Published by Elsevier B.V. on behalf of The Japanese Society of Child Neurology.
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