To the Editor: Acute necrotizing encephalopathy (ANE) is a rapidly progressing encephalopathy induced by viral infections within a few days in otherwise healthy children [1]. Although most of the ANE cases are sporadic; a recurrent and familial form has been defined due to mutations in the RANBP2 gene which encodes the nuclear pore component of RAN Binding Protein 2 [2]. In general, it is presented with seizures, neurological defects and/or altered consciousness and imaging techniques may aid in its diagnosis defining symmetric, multifocal lesions especially on thalami, pons or brainstem [3]. A previously healthy 12-y-old boy developed confusion, fever, vomiting, and diarrhea and became unresponsive in 5 d following febrile upper respiratory system infection. Physical findings included Glasgow coma score of 7 and left Babinski signs. T2-weighted brain magnetic resonance imaging (MRI) revealed symmetric hyperintense lesions in the pons and brain stem. T1-weighted MRI showed decreased signal within the same corresponding areas, with gadolinium enhancement (Fig. 1). An EEG showed slow-wave activity consistent with encephalopathy without any epileptiform discharges. Metabolic screen and lumbar puncture analysis were normal. He completely recovered in about 10 d with supportive treatment. Likewise, 2 y later, he also had another similar attack; that developed after 48 h of an upper respiratory system infection, presented with convulsions and recovered completely in a few weeks. In the light of these clinical findings, whole exome sequencing of patient DNA was performed, which revealed c.1754C > T mutation in heterozygous state. Prediction analysis with in silico algorithms, such as CADD (http://cadd.gs.washington.edu/), and Human Splice Finder (http://www.umd.be/HSF3/HSF.shtml) showed this alteration to be pathogenic and disease-causing. In conclusion, we suggest that recurrent ANE determined in this patient can be associated with this mutation. Clinicians should be aware of novel mutations and genetic testing for ANE.
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