title: RANBP2 mutation in an Indian child with recurrent acute necrotizing encephalopathy.
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.
  
  
  METHODS
  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.
authors: Division of Child Neurology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110029, India.
authors: Vishal
authors: V
authors: Sondhi
authors: Division of Child Neurology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110029, India.
authors: Biswaroop
authors: B
authors: Chakrabarty
authors: Department of Radio-diagnosis, Jaiprakash Narayan Apex Trauma Centre, All India Institute of Medical Sciences, New Delhi 110029, India.
authors: Atin
authors: A
authors: Kumar
authors: Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
authors: Sudha
authors: S
authors: Kohli
authors: Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
authors: Renu
authors: R
authors: Saxena
authors: Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
authors: I C
authors: IC
authors: Verma
authors: Division of Child Neurology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110029, India. Electronic address: sheffalig@yahoo.com.
authors: Sheffali
authors: S
authors: Gulati
mesh_terms: D044466:Asian People / Q000235:genetics; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007194:India; D004684:Leukoencephalitis, Acute Hemorrhagic / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism; D018832:Molecular Chaperones / Q000235:genetics*; D009154:Mutation; D028861:Nuclear Pore Complex Proteins / Q000235:genetics*
chemical_list: D018832:Molecular Chaperones; D028861:Nuclear Pore Complex Proteins; C094493:ran-binding protein 2
keywords: Chromosome 2q11–13; Dexamethasone; Gamma globulin; OMIM 601181; Thalamic hyperintensities