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Brain Dev. 2016 Nov;38(10):937-942. doi: 10.1016/j.braindev.2016.05.007. Epub 2016 Aug 30.

RANBP2 mutation in an Indian child with recurrent acute necrotizing encephalopathy.

Author information

1
Division of Child Neurology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110029, India.
2
Department of Radio-diagnosis, Jaiprakash Narayan Apex Trauma Centre, All India Institute of Medical Sciences, New Delhi 110029, India.
3
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
4
Division of Child Neurology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110029, India. Electronic address: sheffalig@yahoo.com.

Abstract

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.

KEYWORDS:

Chromosome 2q11–13; Dexamethasone; Gamma globulin; OMIM 601181; Thalamic hyperintensities

PMID:
27591117
DOI:
10.1016/j.braindev.2016.05.007
[Indexed for MEDLINE]

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