Moyamoya Disease in a Child With Fanconi Anemia: An Anomaly or a Complication

Fanconi anemia (FA) is an inherited bone marrow failure syndrome associated with congenital anomalies and a predisposition to cancer. We report the case of a 9-year-old boy with FA who developed an abrupt onset of hemiplegia and dysarthria. The diagnosis of moyamoya disease (MMD) was suggested by magnetic resonance angiography (MRA) which demonstrated severe stenosis in the right internal carotid artery along with collateral vessel formation in the right basal ganglia. It is questioned whether the moyamoya pattern in this case is part of congenital malformations associated with FA or is the result of recurrent bleedings around the carotid siphon.