Moya moya vasculopathy and MECP2 duplication syndrome

Childs Nerv Syst. 2024 Mar;40(3):809-812. doi: 10.1007/s00381-023-06139-0. Epub 2023 Oct 7.


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.

Keywords: Epilepsy; MECP2 duplication syndrome; Moya moya vasculopathy; Stroke.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Child
  • Gene Duplication
  • Genetic Testing
  • Humans
  • Mental Retardation, X-Linked* / genetics
  • Moyamoya Disease* / diagnostic imaging
  • Moyamoya Disease* / genetics

Supplementary concepts

  • Lubs X-linked mental retardation syndrome