Unilateral internal carotid artery absence in trisomy 18.

Background: Internal carotid artery (ICA) absence (agenesis or aplasia) is a rare congenital anomaly that is usually asymptomatic and found coincidentally. There has been no report showing a specific chromosomal abnormality causes ICA absence.

Case Reports: MR angiography in a Japanese male infant with trisomy 18 revealed left ICA absence with the left middle cerebral artery (MCA) and anterior cerebral artery (ACA) supplied from the ipsilateral posterior communicating artery and anterior communicating artery (ACoA), respectively, type A in Lie's classification. Another Japanese male infant with trisomy 18 showed right ICA absence with the right ACA and MCA supplied from the ACoA, that is, type B in Lie's classification.

Conclusion: There have been no pathological or radiological reports of ICA absence in trisomy 18, however, it may be underestimated because the anomaly usually causes no clinical symptoms. It is necessary to evaluate further patients to clarify whether or not unilateral ICA absence is a characteristic congenital malformation.