Familial acute necrotizing encephalopathy without RANBP 2 mutation: Poor outcome

• Published in: Pediatrics international Vol. 58; no. 11; pp. 1215 - 1218
• Main Authors: Nishimura, Naoko, Higuchi, Yoshihisa, Kimura, Nobusuke, Nozaki, Fumihito, Kumada, Tomohiro, Hoshino, Ai, Saitoh, Makiko, Mizuguchi, Masashi
• Format: Journal Article
• Language: English
• Published: 01.11.2016
• ISSN: 1328-8067; 1442-200X
• DOI: 10.1111/ped.13119

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 ( RANBP 2 ) 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 RANBP 2 and carnitine palmitoyl transferase II ( CPT 2 ), indicated neither mutations nor disease‐related polymorphisms. On literature review, recurrent or familial ANE without the RANBP 2 mutation has a more severe outcome and greater predilection for male sex than that with the RANBP 2 mutation. This suggests that there are unknown gene mutations linked to ANE .