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01-08-2020 | Influenza | Brief Communication

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

Authors: Antonio Gatto, Paolo Mariotti, Domenico Umberto De Rose, Antonietta Curatola, Giuseppina Mancini, Ilaria Lazzareschi, Roberto Ciccone, Raffaele Badolato, Piero Valentini

Published in: Neurological Sciences | Issue 8/2020

Abstract

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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Chen WX, Liu HS, Yang SD, Zeng SH, Gao YY, du ZH, Li XJ, Lin HS, Liang HC, Mai JN (2016) Reversible splenial lesion syndrome in children: retrospective study and summary of case series. Brain Dev 38(10):915–927CrossRef

Feraco P, Porretti G, Marchiò G, Bellizzi M, Recla M (2018) Mild encephalitis/encephalopathy with reversible splenial lesion (MERS) due to cytomegalovirus: case report and review of the literature. Neuropediatrics. 49(1):68–71CrossRef

Moratto D, Gulino AV, Fontana S, Mori L, Pirovano S, Soresina A, Meini A, Imberti L, Notarangelo LD, Plebani A, Badolato R (2006) Combined decrease of defined B and T cell subsets in a group of common variable immunodeficiency patients. Clin Immunol 121(2):203–214CrossRef

Kimura E, Okamoto S, Uchida Y, Hirahara T, Ikeda T, Hirano T, Uchino M (2008) A reversible lesion of the corpus callosum splenium with adult influenza-associated encephalitis/encephalopathy: a case report. J Med Case Rep 2:220CrossRef

Ka A, Britton P, Troedson C, Webster R, Procopis P, Ging J, Chua YW, Buckmaster A, Wood N, Jones C, Dale RC (2015) Mild encephalopathy with reversible splenial lesion: an important differential of encephalitis. Eur J Paediatr Neurol 19(3):377–382CrossRef

Iwata A, Matsubara K, Nigami H, Kamimura K, Fukaya T (2010) Reversible splenial lesion associated with novel influenza a (H1N1) viral infection. Pediatr Neurol 42:447–450CrossRef

Fluss J, Ferey S, Menache-Starobinski C, Delavelle J, van Bogaert P, Vargas MI (2010) Mild influenza-associated encephalopathy/encephalitis with a reversible splenial lesion in a Caucasian child with additional cerebellar features. Eur J Paediatr Neurol 14(1):97–100CrossRef

Tahara J, Shinozuka J, Awaguni H et al. (2016) Mild Encephalopathy with reversible lesions in the splenium of corpus callosum and bilateral cerebral deep white matter in identical twins. Pediatr Rep 19;8(3):6615. https://doi.org/10.4081/pr.2016.6615

Rać ME, Safranow K, Poncyljusz W (2007) Molecular basis of human CD36 gene mutations. Mol Med 13(5–6):288–296. https://doi.org/10.2119/2006-00088.Rac CrossRefPubMedPubMedCentral

10.

Yufu Y, Ideguchi H, Narishige T, Suematsu E, Toyoda K, Nishimura J, Nawata H, Oda S (1990) Familial macrothrombocytopenia associated with decreased glycosylation of platelet membrane glycoprotein IV. Am J Hematol 33:271–273CrossRef

11.

Tanaka T, Sohmiya K, Kawamura K (1997) Is CD36 deficiency an etiology of hereditary hypertrophic cardiomyopathy? J Mol Cell Cardiol 29:121–127CrossRef

12.

Miyaoka K, Kuwasako T, Hirano K et al (2001) CD36 deficiency associated with insulin resistance. (Letter). Lancet 357:686–687CrossRef

13.

Zheng F, Yang Y, Lu S, Yang Q, Li Y, Xu X, Zhang Y, Liu F, Tian X, Wang X (2017) CD36 deficiency suppresses epileptic seizures. Neuroscience. 367:110–120CrossRef

14.

Garcia-Bonilla L, Park L, Iadecola C (2014) Commentary on Myers et al.: growing role of the innate immunity receptor CD36 in central nervous system diseases. Exp Neurol 261:633–637CrossRef

Title: Mild encephalitis/encephalopathy with reversible splenial lesion (MERS) in twin sisters with two CD36 frameshift mutations
Authors: Antonio Gatto
Paolo Mariotti
Domenico Umberto De Rose
Antonietta Curatola
Giuseppina Mancini
Ilaria Lazzareschi
Roberto Ciccone
Raffaele Badolato
Piero Valentini
Publication date: 01-08-2020
Publisher: Springer International Publishing
Keywords: Influenza
Encephalitis
Encephalopathy
Published in: Neurological Sciences / Issue 8/2020
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-020-04417-2

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

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

Abstract

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

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