Mild encephalitis/encephalopathy with reversible splenial lesion (MERS) in twin sisters with two CD36 frameshift mutations

被引：0
作者：
Antonio Gatto
Paolo Mariotti
Domenico Umberto De Rose
Antonietta Curatola
Giuseppina Mancini
Ilaria Lazzareschi
Roberto Ciccone
Raffaele Badolato
Piero Valentini
机构：
[1] Fondazione Policlinico Universitario A. Gemelli IRCCS,Institute of Pediatrics
[2] Fondazione Policlinico Universitario A. Gemelli IRCCS,Department of Pediatric Neurology
[3] Università Cattolica Sacro Cuore,Institute of Pediatrics, Fondazione Policlinico A. Gemelli IRCCS
[4] University of Pavia,Department of Molecular Medicine
[5] Università degli Studi di Brescia,Clinica pediatrica e “Istituto Molecolare A. Nocivelli”, Asst Spedali civili
来源：
Neurological Sciences | 2020年 / 41卷
关键词：
MERS; CD36; Encephalitis; Encephalopathy;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) is a clinical radiological syndrome with good prognosis that affects mainly children or young adults. We describe two cases of MERS, associated with echovirus 6 and influenza A infection, in two twin sisters, at the age of 4 years. Genetic analysis was performed; next exome sequencing was performed on twins to disclose the eventual causative gene. Two different frameshift mutations in the CD36 gene [NM_000072] were found in both twins and confirmed by Sanger sequencing. To best of our knowledge, we report an association between CD36 mutation and MERS. We think that this relation between CD36 and inflammation has had a crucial role in the same callosal alteration during viral disease in the twin sister with the same gene mutation.
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页码：2271 / 2274
页数：3
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