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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. METHODS 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. CONCLUSIONS 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.
Gianna Holover, and
Darius Adams, and
Dawn Milligan, and
Rina Goldberg, and
Jose Rios, and
Jeffrey Kornitzer, and
Catherine Mazzola
June 2024,
Neuropediatrics,
Gianna Holover, and
Darius Adams, and
Dawn Milligan, and
Rina Goldberg, and
Jose Rios, and
Jeffrey Kornitzer, and
Catherine Mazzola
April 2012,
Molecular syndromology,
Gianna Holover, and
Darius Adams, and
Dawn Milligan, and
Rina Goldberg, and
Jose Rios, and
Jeffrey Kornitzer, and
Catherine Mazzola
October 2021,
Journal of neurochemistry,
Gianna Holover, and
Darius Adams, and
Dawn Milligan, and
Rina Goldberg, and
Jose Rios, and
Jeffrey Kornitzer, and
Catherine Mazzola
April 2020,
Revista de neurologia,
Gianna Holover, and
Darius Adams, and
Dawn Milligan, and
Rina Goldberg, and
Jose Rios, and
Jeffrey Kornitzer, and
Catherine Mazzola
May 2010,
American journal of medical genetics. Part A,
Gianna Holover, and
Darius Adams, and
Dawn Milligan, and
Rina Goldberg, and
Jose Rios, and
Jeffrey Kornitzer, and
Catherine Mazzola
January 2022,
Neuropsychiatric disease and treatment,
Gianna Holover, and
Darius Adams, and
Dawn Milligan, and
Rina Goldberg, and
Jose Rios, and
Jeffrey Kornitzer, and
Catherine Mazzola
October 2015,
Zhonghua er ke za zhi = Chinese journal of pediatrics,
Gianna Holover, and
Darius Adams, and
Dawn Milligan, and
Rina Goldberg, and
Jose Rios, and
Jeffrey Kornitzer, and
Catherine Mazzola
March 2023,
BMC medical genomics,
Gianna Holover, and
Darius Adams, and
Dawn Milligan, and
Rina Goldberg, and
Jose Rios, and
Jeffrey Kornitzer, and
Catherine Mazzola
April 2022,
Children (Basel, Switzerland),
Gianna Holover, and
Darius Adams, and
Dawn Milligan, and
Rina Goldberg, and
Jose Rios, and
Jeffrey Kornitzer, and
Catherine Mazzola
May 2013,
Brain & development,
