World neurosurgery · 2016
Moyamoya Disease in a Patient with VACTERL Association.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Hong Christopher S, Wang Anthony C, Bonow Robert H, Abecassis Isaac J, Amlie-Lefond Catherine, Ellenbogen Richard G
Аннотация
BACKGROUND: VACTERL association is characterized by a group of congenital malformations that tend to occur together. Rarely, concurrent cerebrovascular abnormalities have been reported. In this article, we present the first reported case of moyamoya disease in a patient with VACTERL association.
CASE DESCRIPTION: The patient presented in the neonatal period with esophageal atresia with distal tracheoesophageal fistula as well as an imperforate anus. He also had a ventricular septal defect and persistent foramen ovale. At age 11 years, he developed seizures and was diagnosed with moyamoya disease, for which he underwent bilateral pial synagiosis.
CONCLUSIONS: Our report adds moyamoya disease to the spectrum of rare diseases that may occur in the context of VACTERL association. Further studies may reveal whether a common pathophysiology exists between the 2 conditions. Our patient's congenital heart disease and the association between renovascular and cardiac disease with moyamoya may suggest a systemic vasculopathy. Moyamoya should be considered in children with VACTERL association who present with neurologic deficits or seizures.
CASE DESCRIPTION: The patient presented in the neonatal period with esophageal atresia with distal tracheoesophageal fistula as well as an imperforate anus. He also had a ventricular septal defect and persistent foramen ovale. At age 11 years, he developed seizures and was diagnosed with moyamoya disease, for which he underwent bilateral pial synagiosis.
CONCLUSIONS: Our report adds moyamoya disease to the spectrum of rare diseases that may occur in the context of VACTERL association. Further studies may reveal whether a common pathophysiology exists between the 2 conditions. Our patient's congenital heart disease and the association between renovascular and cardiac disease with moyamoya may suggest a systemic vasculopathy. Moyamoya should be considered in children with VACTERL association who present with neurologic deficits or seizures.