Moyamoya Disease in a Child With Fanconi Anemia: An Anomaly or a Complication
Samin Alavi, Mitra Khalili, Zahra Khaffafpour, Negar Shams
TL;DR
A 9-year-old boy with Fanconi anemia developed moyamoya disease, raising questions about whether it is a congenital anomaly or a complication.
Contribution
This case report explores the potential link between moyamoya disease and Fanconi anemia.
Findings
MRA showed severe stenosis in the right internal carotid artery and collateral vessel formation.
The case questions if moyamoya is a congenital anomaly or a complication of recurrent bleeding in Fanconi anemia.
Abstract
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.
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Taxonomy
TopicsMoyamoya disease diagnosis and treatment · Neurological Complications and Syndromes · Cerebrovascular and genetic disorders