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Teaching NeuroImages: Abnormal cervical and cerebral vasculature in 22q11 deletion syndrome

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A 12-day-old girl with a postnatal microarray diagnosis of 22q11.2 deletion syndrome was transferred for surgical repair of truncus arteriosus. Neurologic examination at the time of transfer was unremarkable. Brain… Click to show full abstract

A 12-day-old girl with a postnatal microarray diagnosis of 22q11.2 deletion syndrome was transferred for surgical repair of truncus arteriosus. Neurologic examination at the time of transfer was unremarkable. Brain MRI on day of life 9 demonstrated an absent left internal carotid flow void. Magnetic resonance angiography of the head (figure, A) and neck (figure, B) was subsequently obtained prior to cardiac repair. Patients with 22q11 deletion syndromes may have abnormal cervical vessel development.1 Children with congenital heart disease have an elevated stroke risk, particularly for periprocedural stroke.2 Understanding variant cerebrovascular anatomy in these cases may aid in surgical planning to mitigate stroke risk.

Keywords: deletion syndrome; abnormal cervical; deletion; 22q11 deletion; teaching neuroimages

Journal Title: Neurology
Year Published: 2017

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