title: Moyamoya syndrome in a child with trisomy 12p syndrome.
abstract: A female, 2 years and 7 months of age, was admitted to the hospital with stupor and nystagmus following projectile vomiting. She had been prenatally diagnosed with trisomy 12p with a familial pericentric inversion of chromosome 12 originating from her mother. She manifested developmental delay and some dysmorphic features of the face and limbs compatible with the clinical features of trisomy 12p. Four-vessel cerebral angiography revealed severe stenosis and occlusion of the supraclinoid portion of the right and left internal carotid arteries with numerous collateral vessels in the vicinity of the occlusion. These features are consistent with moyamoya syndrome. This report presents the first case of moyamoya syndrome with trisomy 12p with a familial pericentric inversion of chromosome 12.
authors.affiliation: Department of Pediatrics, Chonnam National University Hospital, Gwangju, Korea. ik052@unitel.co.kr
authors.forename: Young Ok
authors.initials: YO
authors.lastname: Kim
authors.forename: Hee Jo
authors.initials: HJ
authors.lastname: Baek
authors.forename: Young Jong
authors.initials: YJ
authors.lastname: Woo
authors.forename: Young Youn
authors.initials: YY
authors.lastname: Choi
authors.forename: Tae Woong
authors.initials: TW
authors.lastname: Chung
mesh_terms: D002533:Cerebral Angiography; D002675:Child, Preschool; D002871:Chromosome Banding; D002881:Chromosomes, Human, Pair 12; D002658:Developmental Disabilities / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009072:Moyamoya Disease / Q000235:genetics* / Q000473:pathology; D014314:Trisomy