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Erschienen in: The Indian Journal of Pediatrics 9/2018

24.04.2018 | Scientific Letter

RANBP2 Mutation in Clinically Undiagnosed Acute Necrotizing Encephalopathy

verfasst von: Sedat Işıkay, Yavuz Şahin

Erschienen in: Indian Journal of Pediatrics | Ausgabe 9/2018

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Excerpt

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.
Literatur
1.
Zurück zum Zitat Wu X, Wu W, Pan W, Wu L, Liu K, Zhang HL. Acute necrotizing encephalopathy: an underrecognized clinicoradiologic disorder. Mediat Inflamm. 2015;2015:792578. Wu X, Wu W, Pan W, Wu L, Liu K, Zhang HL. Acute necrotizing encephalopathy: an underrecognized clinicoradiologic disorder. Mediat Inflamm. 2015;2015:792578.
2.
Zurück zum Zitat Neilson DE. The interplay of infection and genetics in acute necrotizing-encephalopathy. Curr Opin Pediatr. 2010;22:751–7.CrossRefPubMed Neilson DE. The interplay of infection and genetics in acute necrotizing-encephalopathy. Curr Opin Pediatr. 2010;22:751–7.CrossRefPubMed
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Zurück zum Zitat Mizuguchi M. Acute necrotizing encephalopathy of childhood: a novel form of acute encephalopathy prevalent in Japan and Taiwan. Brain Dev. 1997;19:81–92.CrossRefPubMed Mizuguchi M. Acute necrotizing encephalopathy of childhood: a novel form of acute encephalopathy prevalent in Japan and Taiwan. Brain Dev. 1997;19:81–92.CrossRefPubMed
Metadaten
Titel
RANBP2 Mutation in Clinically Undiagnosed Acute Necrotizing Encephalopathy
verfasst von
Sedat Işıkay
Yavuz Şahin
Publikationsdatum
24.04.2018
Verlag
Springer India
Erschienen in
Indian Journal of Pediatrics / Ausgabe 9/2018
Print ISSN: 0019-5456
Elektronische ISSN: 0973-7693
DOI
https://doi.org/10.1007/s12098-018-2678-0

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