title: [Postinfectious family case of acute necrotizing encephalopathy caused by RANBP2 gene mutation].
abstract: Acute necrotizing encephalopathy is a rare neurologic disease most often triggered by a febrile viral event affecting an otherwise healthy infant. The clinical course is characterized by rapid deterioration of the neurological condition that often leads to coma and requires intensive care. The diagnosis is usually suggested by MRI, which shows symmetrical and focal necrotic lesions of thalami. Acute necrotizing encephalopathy has been linked in recent studies to an autosomal-dominant mutation of the gene for the protein RAN-binding protein 2.
  
  
  METHODS
  We report three cases in siblings of Tunisian origin. Two of them presented with acute necrotizing encephalopathy at the age of 9 months in the immediate aftermath of a viral infection. The molecular study conducted in the family showed that both patients and their mother were carriers of the missense mutation gene RAN-binding protein 2.
  
  
  CONCLUSIONS
  Although the role of Ran BP2 protein is incompletely known, mutation of the RANBP2 gene causes rare, reversible central neurologic disorders. Suspected diagnosis is facilitated by MRI, which shows specific lesions of multifocal, symmetric involvement of the thalami, brainstem tegmentum, supratentorial white matter, and cerebellum. Due to the low frequency of the disease and its non-specific clinical presentation, the diagnosis of acute necrotizing encephalopathy is a major challenge, while preventative measures can be proposed in familial mutation.
authors: Centre de référence des maladies métaboliques, service de neurologie pédiatrique, hôpital d'Enfants, CHU Timone, 265, rue Saint-Pierre, 13385 Marseille cedex 05, France.
authors: C
authors: C
authors: Di Meglio
authors: Centre de référence des maladies métaboliques, service de neurologie pédiatrique, hôpital d'Enfants, CHU Timone, 265, rue Saint-Pierre, 13385 Marseille cedex 05, France.
authors: A
authors: A
authors: Cano
authors: Centre de référence des maladies métaboliques, service de neurologie pédiatrique, hôpital d'Enfants, CHU Timone, 265, rue Saint-Pierre, 13385 Marseille cedex 05, France.
authors: M
authors: M
authors: Milh
authors: Service de neuroradiologie diagnostique et interventionnelle, hôpital de la Timone Enfant, CHU Timone, 13385 Marseille cedex 05, France.
authors: N
authors: N
authors: Girard
authors: Service de génétique et embryologie médicales, CHU, hôpital d'Enfants Armand-Trousseau, 75571 Paris, France.
authors: L
authors: L
authors: Burglen
authors: Centre de référence des maladies métaboliques, service de neurologie pédiatrique, hôpital d'Enfants, CHU Timone, 265, rue Saint-Pierre, 13385 Marseille cedex 05, France. Electronic address: brigitte.chabrol@ap-hm.fr.
authors: B
authors: B
authors: Chabrol
mesh_terms: D002531:Cerebellum / Q000473:pathology; D002869:Chromosome Aberrations; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D018450:Disease Progression; D004292:Dominance, Cerebral / Q000502:physiology; D054242:Emigrants and Immigrants; D005602:France; D005799:Genes, Dominant / Q000235:genetics*; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D004684:Leukoencephalitis, Acute Hemorrhagic / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D018832:Molecular Chaperones / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D009460:Neurologic Examination; D028861:Nuclear Pore Complex Proteins / Q000235:genetics*; D013681:Tegmentum Mesencephali / Q000473:pathology; D013788:Thalamus / Q000473:pathology; D014416:Tunisia / Q000208:ethnology; D014777:Virus Diseases / Q000150:complications
chemical_list: D018832:Molecular Chaperones; D028861:Nuclear Pore Complex Proteins; C094493:ran-binding protein 2