title: Immunomodulatory therapy in recurrent acute necrotizing encephalopathy ANE1: is it useful?
abstract: Acute Necrotizing Encephalopathy (ANE) is a rare disorder characterized by fever, seizures and rapid progression to coma after the onset of a viral infection. Most cases are sporadic, however the observation of multiple cases in the same family with recurrent episodes of ANE led to the identification of a genetic form of the disorder, called ANE1, and to the discover of the causative mutation in RANBP2 gene. We report the first Italian child with ANE1 carrying the common c.1880C>T mutation in the RANBP2 gene, who presented three episodes of acute encephalopathy in the first two years of life. The child showed a less severe clinical and neuroradiological course with respect to the previously reported patients. During the acute encephalopathy episodes he was treated with steroids and immunoglobulin. A very low steroid maintenance therapy was administered after the second episode until the onset of the third. Thirty days after the last episode he started monthly intravenous immunoglobulin that might be used for prevention of viral infections. At the moment he is still continuing a low steroid maintenance therapy and monthly IVIG. We could hypothesize that the less severe clinical presentation of the third episode might be correlated to the steroid treatment or that the patient grew older. Despite there is no evidence to support that ANE1 is an immune-mediated disease, immunomodulatory therapy might be considered in the management of ANE1 cases especially in early childhood, in which a fatal course has been frequently reported. Further studies will be necessary to define the clinical, immunological and genetic aspects, as well as the outcome of immunomodulatory therapy in patients with ANE1.
authors.affiliation: Dipartimento di Scienze Pediatriche, Università di Genova, IRCCS G. Gaslini, Genova, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Bergamino
authors.forename: Valeria
authors.initials: V
authors.lastname: Capra
authors.forename: Roberta
authors.initials: R
authors.lastname: Biancheri
authors.forename: Andrea
authors.initials: A
authors.lastname: Rossi
authors.forename: Angela
authors.initials: A
authors.lastname: Tacchella
authors.forename: Linda
authors.initials: L
authors.lastname: Ambrosini
authors.forename: Masashi
authors.initials: M
authors.lastname: Mizuguchi
authors.forename: Makiko
authors.initials: M
authors.lastname: Saitoh
authors.forename: Maria Grazia
authors.initials: MG
authors.lastname: Marazzi
mesh_terms: D001921:Brain / Q000473:pathology*; D002675:Child, Preschool; D003907:Dexamethasone / Q000627:therapeutic use; D005938:Glucocorticoids / Q000627:therapeutic use; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use*; D056747:Immunomodulation; D004684:Leukoencephalitis, Acute Hemorrhagic / Q000188:drug therapy* / Q000473:pathology; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D012008:Recurrence; D016896:Treatment Outcome
chemical_list: D005938:Glucocorticoids; D016756:Immunoglobulins, Intravenous; D003907:Dexamethasone