Skip to main content

Advertisement

SpringerLink
Log in

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

  • Brief Communication
  • Published:
Neurological Sciences Aims and scope Submit manuscript

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2

References

  1. 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):915–927

    Article  Google Scholar 

  2. 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):68–71

    Article  Google Scholar 

  3. 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):203–214

    Article  CAS  Google Scholar 

  4. 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 2:220

    Article  Google Scholar 

  5. 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):377–382

    Article  Google Scholar 

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

    Article  Google Scholar 

  7. 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):97–100

    Article  Google Scholar 

  8. 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

  9. 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

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  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 33:271–273

    Article  CAS  Google Scholar 

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

    Article  CAS  Google Scholar 

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

    Article  CAS  Google Scholar 

  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. 367:110–120

    Article  CAS  Google Scholar 

  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 261:633–637

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Institute of Pediatrics, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli 8, 00168, Rome, Italy

    Antonio Gatto

  2. Department of Pediatric Neurology, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy

    Paolo Mariotti

  3. Institute of Pediatrics, Fondazione Policlinico A. Gemelli IRCCS, Università Cattolica Sacro Cuore, Rome, Italy

    Domenico Umberto De Rose, Antonietta Curatola, Giuseppina Mancini, Ilaria Lazzareschi & Piero Valentini

  4. Department of Molecular Medicine, University of Pavia, Pavia, Italy

    Roberto Ciccone

  5. Clinica pediatrica e “Istituto Molecolare A. Nocivelli”, Asst Spedali civili, Università degli Studi di Brescia, Brescia, Italy

    Raffaele Badolato

Authors
  1. Antonio Gatto
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Paolo Mariotti
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Domenico Umberto De Rose
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Antonietta Curatola
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Giuseppina Mancini
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Ilaria Lazzareschi
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Roberto Ciccone
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Raffaele Badolato
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Piero Valentini
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Antonio Gatto.

Ethics declarations

Conflict of interest

The authors declare that they have no conflicts of interest.

Ethical approval

The authors certify that they comply with the Principles of Ethical Publishing.

Informed consent

Informed consent was obtained from all individual participants included in the study.

Additional information

Publisher’s note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Electronic supplementary material

ESM 1

(JPG 97 kb).

ESM 2

(JPG 266 kb).

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Gatto, A., Mariotti, P., De Rose, D.U. et al. Mild encephalitis/encephalopathy with reversible splenial lesion (MERS) in twin sisters with two CD36 frameshift mutations. Neurol Sci 41, 2271–2274 (2020). https://doi.org/10.1007/s10072-020-04417-2

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10072-020-04417-2

Keywords

Search

Navigation