Mild encephalitis/encephalopathy with reversible splenial lesion (MERS) in twin sisters with two CD36 frameshift mutations.
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.
['Gatto|Antonio|A|https://orcid.org/0000-0002-8778-9328', 'Mariotti|Paolo|P|', 'De Rose|Domenico Umberto|DU|', 'Curatola|Antonietta|A|', 'Mancini|Giuseppina|G|', 'Lazzareschi|Ilaria|I|', 'Ciccone|Roberto|R|', 'Badolato|Raffaele|R|', 'Valentini|Piero|P|']
D001927:Brain Diseases D018955:CD36 Antigens D002648:Child D002675:Child, Preschool D003337:Corpus Callosum D004660:Encephalitis D016368:Frameshift Mutation D006801:Humans D008279:Magnetic Resonance Imaging D064170:Paraspinal Muscles D055815:Young Adult
Encephalitis Encephalopathy MERS CD36