title: Moyamoya Disease in a Patient with VACTERL Association.
abstract: 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.
  
  
  METHODS
  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.
authors: The Ohio State University Wexner Medical Center, College of Medicine, Columbus, Ohio, USA.
authors: Christopher S
authors: CS
authors: Hong
authors: Department of Neurological Surgery, University of Washington, Seattle Children's Hospital, Seattle, Washington, USA.
authors: Anthony C
authors: AC
authors: Wang
authors: Department of Neurological Surgery, University of Washington, Seattle Children's Hospital, Seattle, Washington, USA.
authors: Robert H
authors: RH
authors: Bonow
authors: Department of Neurological Surgery, University of Washington, Seattle Children's Hospital, Seattle, Washington, USA.
authors: Isaac J
authors: IJ
authors: Abecassis
authors: Division of Pediatric Neurology, Department of Neurology, University of Washington, Seattle Children's Hospital, Seattle, Washington, USA.
authors: Catherine
authors: C
authors: Amlie-Lefond
authors: Department of Neurological Surgery, University of Washington, Seattle Children's Hospital, Seattle, Washington, USA. Electronic address: RGE@neurosurgery.washington.edu.
authors: Richard G
authors: RG
authors: Ellenbogen
mesh_terms: D001003:Anal Canal / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000601:surgery; D002648:Child; D004947:Esophagus / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000601:surgery; D006330:Heart Defects, Congenital / Q000150:complications* / Q000000981:diagnostic imaging / Q000601:surgery; D006801:Humans; D007668:Kidney / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000601:surgery; D017880:Limb Deformities, Congenital / Q000150:complications* / Q000000981:diagnostic imaging / Q000601:surgery; D018810:Magnetic Resonance Angiography; D008279:Magnetic Resonance Imaging; D008297:Male; D009072:Moyamoya Disease / Q000150:complications* / Q000000981:diagnostic imaging / Q000601:surgery; D013131:Spine / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000601:surgery; D014132:Trachea / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000601:surgery
keywords: Indirect bypass; Moyamoya; Pial synangiosis; VACTERL