title: Familial acute necrotizing encephalopathy without RANBP2 mutation: Poor outcome.
abstract: Most childhood cases of acute necrotizing encephalopathy (ANE) involve neither family history nor recurrence. ANE occasionally occurs, however, as a familial disorder or recurs in Caucasian patients. A mutation of RAN-binding protein 2 (RANBP2) has been discovered in more than one half of familial or recurrent ANE patients. In contrast, there has been no report of this mutation in East Asia. Here, we report the first sibling cases of typical ANE in Japan, with poor outcome. DNA analysis of genes associated with ANE or other encephalopathies, including RANBP2 and carnitine palmitoyl transferase II (CPT2), indicated neither mutations nor disease-related polymorphisms. On literature review, recurrent or familial ANE without the RANBP2 mutation has a more severe outcome and greater predilection for male sex than that with the RANBP2 mutation. This suggests that there are unknown gene mutations linked to ANE.
authors.affiliation: Division of Endocrinology and Metabolism, Aichi Children's Health and Medical Center, Aichi, Japan.|Department of Pediatrics, Otsu Red Cross Hospital, Shiga, Japan.
authors.forename: Naoko
authors.initials: N
authors.lastname: Nishimura
authors.affiliation: Department of Pediatrics, Otsu Red Cross Hospital, Shiga, Japan.
authors.forename: Yoshihisa
authors.initials: Y
authors.lastname: Higuchi
authors.affiliation: Department of Pediatrics, Otsu Red Cross Hospital, Shiga, Japan.
authors.forename: Nobusuke
authors.initials: N
authors.lastname: Kimura
authors.affiliation: Department of Pediatrics, Shiga Medical Center for Children, Shiga, Japan.
authors.forename: Fumihito
authors.initials: F
authors.lastname: Nozaki
authors.affiliation: Department of Pediatrics, Shiga Medical Center for Children, Shiga, Japan.
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Kumada
authors.affiliation: Department of Developmental Medical Sciences, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
authors.forename: Ai
authors.initials: A
authors.lastname: Hoshino
authors.affiliation: Department of Developmental Medical Sciences, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
authors.forename: Makiko
authors.initials: M
authors.lastname: Saitoh
authors.affiliation: Department of Developmental Medical Sciences, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
authors.forename: Masashi
authors.initials: M
authors.lastname: Mizuguchi
mesh_terms: D000208:Acute Disease; D001921:Brain / Q000000981:diagnostic imaging*; D001927:Brain Diseases / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D018832:Molecular Chaperones / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D028861:Nuclear Pore Complex Proteins / Q000235:genetics* / Q000378:metabolism; D035781:Siblings
chemical_list: D018832:Molecular Chaperones; D028861:Nuclear Pore Complex Proteins; C094493:ran-binding protein 2; D004247:DNA
keywords: RAN-binding protein 2; acute necrotizing encephalopathy; carnitine palmitoyl transferase II; familial acute necrotizing encephalopathy