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Moya moya vasculopathy and MECP2 duplication syndrome

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Abstract

Background

Moya moya type vasculopathy (MMV) is a rare disorder in which there is narrowing of bilateral intracranial carotid arteries (Scott and Smith in New Engl J Med 360(12):1226–1237, 2009). MECP2 duplication syndrome (MDS) is a rare genetic disorder that is caused by genetic duplications on Xq28 chromosome (Expanding the clinical picture of the MECP2 duplication syndrome. (Lim et al. in Clin Genet 91(4):557–563, 2017). Both disorders are rare and have not been described together in association.

Case Presentation

Interestingly, we present a child with both MDS and MMV. Upon genetic testing, there was found to be a large, de novo duplication sequence in the patient’s genome. Possible correlation between our patient’s extensive genetic mutation and MMV has been evaluated.

Conclusion

Our literature search disclosed no other known patients with both MDS and MMV. Patients with MDS should be monitored carefully for signs or symptoms of vasculopathy.

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Author information

Authors and Affiliations

  1. School of Arts and Science, Rutgers University, New Brunswick, NJ, USA

    Gianna Holover

  2. Department of Genetics, Personalized Genomic Medicine, Morristown, NJ, USA

    Darius Adams

  3. Department of Neurological Surgery, New Jersey Pediatric Neuroscience Institute, 131 Madison Ave 3rd Floor, Morristown, NJ, 07960, USA

    Dawn Milligan & Catherine Mazzola

  4. Department of Pediatric Comprehensive Epilepsy Center, Institute of Neurology and Neurosurgery, Livingston, NJ, USA

    Rina Goldberg

  5. Department of Radiology, Atlantic Medical Group Radiology, Morristown, NJ, USA

    Jose Rios

  6. Department of Neurology, New Jersey Pediatric Neuroscience Institute, Morristown, NJ, USA

    Jeffrey Kornitzer

Authors
  1. Gianna Holover
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  2. Darius Adams
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  3. Dawn Milligan
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  4. Rina Goldberg
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  5. Jose Rios
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  7. Catherine Mazzola
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Contributions

G.H., C.M., J.K., D.M., wrote the main manuscript text. J.R. prepared the imaging and titling for images. D.A. conducted genomic testing and dictated genetic report. G.H. and J.K., illustrated the figure and supplementary data. G.H. researched the supplementary data. R.G., J.K., C.M., D.A., helped research the treatment plan.

Corresponding author

Correspondence to Catherine Mazzola.

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Informed consent was obtained from patient’s legal guardian.

Conflict of interest

The authors declare that the article content was composed in the absence of any commercial or financial relationships that could be constructed as a potential conflict of interest.

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Previous presentations: This abstract and clinical case report are original and have not been submitted elsewhere in part or in whole.

Electronic supplementary material

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Supplementary file1 (DOCX 35 KB)

Appendix

Appendix

Fig. 1
figure 1

Diffusion imaging showing hyperintensity (arrow) in the anterior distribution of the right middle cerebral artery territory indicating an area of acute infarction

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Fig. 2
figure 2

Apparent diffusion coefficient (ADC) showing low signal (arrow) in the anterior distribution of the right middle cerebral artery territory indicating an area of infarction

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Fig. 3
figure 3

Axial T2-weighted image showing prominent and serpiginous signal flow voids of the left lenticulostriate vessels with absence of the left middle cerebral artery (rectangle)

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Fig. 4
figure 4

Coronal maximum intensity projection showing prominent and serpiginous left lenticulostriate vessels with absence of the left middle cerebral artery (rectangle)

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Fig. 5
figure 5

Genes within the overlying region and known affected regions on the Xq28 gene

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Holover, G., Adams, D., Milligan, D. et al. Moya moya vasculopathy and MECP2 duplication syndrome. Childs Nerv Syst 40, 809–812 (2024). https://doi.org/10.1007/s00381-023-06139-0

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  • DOI: https://doi.org/10.1007/s00381-023-06139-0

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