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A case of Moyamoya syndrome and hemoglobin E/beta-thalassemia. 2009

Torrey M Parker, and Leanne M Ward, and Donna L Johnston, and Enrique Ventureya, and Robert J Klaassen
Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada.

Moyamoya syndrome is a rare diagnosis that has been linked to a small number of hemoglobinopathies. Children with Moyamoya syndrome tend to present with transient ischemic attacks, mental deficiency, and/or neurological deficits. We describe a case of a 15-year-old Cambodian male with HbE/beta-thalassemia who was found to have left Moyamoya syndrome as part of an evaluation for growth hormone deficiency. The link between Moyamoya syndrome and HbE/beta-thalassemia may be multifactorial, but Moyamoya syndrome is an important consequence to consider in children with HbE/beta-thalassemia.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D008297 Male Males
D009072 Moyamoya Disease A noninflammatory, progressive occlusion of the intracranial CAROTID ARTERIES and the formation of netlike collateral arteries arising from the CIRCLE OF WILLIS. Cerebral angiogram shows the puff-of-smoke (moyamoya) collaterals at the base of the brain. It is characterized by endothelial HYPERPLASIA and FIBROSIS with thickening of arterial walls. This disease primarily affects children but can also occur in adults. Cerebrovascular Moyamoya Disease,Progressive Intracranial Occlusive Arteropathy (Moyamoya),Moya-Moya Disease,Moyamoya Disease, Classic,Moyamoya Disease, Primary,Moyamoya Disease, Secondary,Moyamoya Syndrome,Classic Moyamoya Disease,Disease, Classic Moyamoya,Disease, Moya-Moya,Disease, Primary Moyamoya,Moya Moya Disease,Moyamoya Diseases, Primary,Primary Moyamoya Disease,Primary Moyamoya Diseases,Secondary Moyamoya Disease
D006446 Hemoglobin E An abnormal hemoglobin that results from the substitution of lysine for glutamic acid at position 26 of the beta chain. It is most frequently observed in southeast Asian populations.
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D017086 beta-Thalassemia A disorder characterized by reduced synthesis of the beta chains of hemoglobin. There is retardation of hemoglobin A synthesis in the heterozygous form (thalassemia minor), which is asymptomatic, while in the homozygous form (thalassemia major, Cooley's anemia, Mediterranean anemia, erythroblastic anemia), which can result in severe complications and even death, hemoglobin A synthesis is absent. Anemia, Cooley's,Anemia, Erythroblastic,Anemia, Mediterranean,Hemoglobin F Disease,Thalassemia Major,Thalassemia Minor,Erythroblastic Anemia,Mediterranean Anemia,Microcytemia, beta Type,Thalassemia Intermedia,Thalassemia Major (beta-Thalassemia Major),Thalassemia Minor (beta-Thalassemia Minor),Thalassemia, beta Type,beta Thalassemia,Anemia, Cooley,Anemia, Cooleys,Anemias, Erythroblastic,Anemias, Mediterranean,Cooley's Anemia,Disease, Hemoglobin F,Intermedia, Thalassemia,Intermedias, Thalassemia,Major, Thalassemia (beta-Thalassemia Major),Majors, Thalassemia (beta-Thalassemia Major),Mediterranean Anemias,Microcytemias, beta Type,Minor, Thalassemia (beta-Thalassemia Minor),Minors, Thalassemia (beta-Thalassemia Minor),Thalassemia Intermedias,Thalassemia Major (beta Thalassemia Major),Thalassemia Majors (beta-Thalassemia Major),Thalassemia Minor (beta Thalassemia Minor),Thalassemia Minors (beta-Thalassemia Minor),Thalassemia, beta,Thalassemias, beta,Thalassemias, beta Type,Type Microcytemia, beta,Type Microcytemias, beta,Type Thalassemia, beta,Type Thalassemias, beta,beta Thalassemias,beta Type Microcytemia,beta Type Microcytemias,beta Type Thalassemia,beta Type Thalassemias
D018810 Magnetic Resonance Angiography Non-invasive method of vascular imaging and determination of internal anatomy without injection of contrast media or radiation exposure. The technique is used especially in CEREBRAL ANGIOGRAPHY as well as for studies of other vascular structures. Angiography, Magnetic Resonance,MRI Angiography,Perfusion Magnetic Resonance Imaging,Perfusion Weighted MRI,Angiographies, MRI,Angiographies, Magnetic Resonance,Angiography, MRI,MRI Angiographies,MRI, Perfusion Weighted,Magnetic Resonance Angiographies

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