Recurrent Acute Necrotizing Encephalopathy in a Korean Child

Abstract

Acute necrotizing encephalopathy is characterized by fever, seizures, acute encephalopathy, and rapid progression to coma. It is usually associated with viral illness and shows characteristic brain magnetic resonance imaging features, including symmetrical involvement of bilateral thalami, brain stem, white matter, and cerebellum. After the first report of recurrent or familial cases in 2003, similar cases were found exclusively in American and European regions. The association with Ran-binding protein 2 gene was identified in 75% of familial or recurrent cases. This report describes a previous healthy 22-month-old boy who recurrently manifested typical clinical and radiological characteristics of acute necrotizing encephalopathy. His neurological outcome worsened with repeated episodes. There was no family history of acute necrotizing encephalopathy and no mutation in the coding region of Ran-binding protein 2 (RANBP2) gene. This is the first reported case of recurrent acute necrotizing encephalopathy in a non-Caucasian family.

Clinical outcome of acute necrotizing encephalopathy in related to involving the brain stem of single institution in Korea

“…We performed the RANBP2 mutation test on patient 5. However, we did not find any mutations in the coding region of RANBP220).…”

Familial acute necrotizing encephalopathy without RANBP2 mutation: Poor outcome

“…In contrast, the outcome of ANE1 was better, only two deaths in the first episode. Furthermore, two patients had recovered, even after recurrence …”

“…Although ANE occurs as frequently in Asia as in North America or Europe, there have been no cases of ANE1 . Lee et al . reported the first case of recurrent ANE in an Asian population in a patient from Korea in 2012, although they did not report an RANBP2 mutation.…”

“…Most cases are sporadic, but some familial or recurrent cases have been reported from North America and Europe. Heterozygous missense mutations of RAN‐binding protein 2 ( RANBP2 ) are found in approximately a half of these cases; this variant of ANE is called ANE1 . Although ANE predominantly affects children in Asia, no ANE1 patients have been reported .…”

“…Heterozygous missense mutations of RAN-binding protein 2 (RANBP2) are found in approximately a half of these cases; this variant of ANE is called ANE1. [1][2][3][4][5][6] Although ANE predominantly affects children in Asia, no ANE1 patients have been reported. 3,4 Here, we report the first sibling cases of typical ANE in Asia along with a literature review.…”