Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2023
Moya moya vasculopathy and MECP2 duplication syndrome.
Клинический случайСтатьяОбзорНазвание и аннотация: Перевод в очереди
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Holover Gianna, Adams Darius, Milligan Dawn, Goldberg Rina, Rios Jose, Kornitzer Jeffrey, Mazzola Catherine
Аннотация
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.
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.