Pediatric moyamoya disease associated with ipsilateral internal carotid artery agenesis: illustrative case

BACKGROUND: Although most cases of internal carotid artery (ICA) agenesis are clinically silent due to a well-developed collateral pathway, some cases may develop ischemic symptoms when they are associated with other occlusive cerebrovascular disorders. The authors describe herein the first case with ICA agenesis that developed ischemic attack because of coincidence with moyamoya disease. OBSERVATIONS: A 3-year-old girl was admitted to the authors’ hospital due to sudden onset of right arm weakness followed by clonic convulsion. Skull computed tomography could not identify the carotid canal on the left side. Simultaneously, magnetic resonance (MR) imaging and MR angiography demonstrated the luminal stenosis and outer diameter reduction of the carotid fork and posterior cerebral artery on the left side. She was diagnosed with unilateral moyamoya disease associated with ipsilateral ICA agenesis. She successfully underwent combined bypass surgery on the left side and has been free from any cerebrovascular events during a follow-up period of 6 months. LESSONS: When patients with ICA agenesis develop ischemic symptoms, careful investigation of the cause and appropriate care, including surgical treatment, are required.