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KMID : 1103720220830061360
Journal of the Korean Society of Radiology
2022 Volume.83 No. 6 p.1360 ~ p.1365
Detection of Cerebrovascular Disease in a Child with Hutchinson-Gilford Progeria Syndrome Using MR Angiography: A Case Report
Lee Jae-Ho

Lee Ha-Young
Lim Myung-Kwan
Kang Young-Hye
Abstract
Hutchinson-Gilford progeria syndrome (HGPS) is a rare, progressive, premature aging syndrome with early morbidity due to cardiovascular and cerebrovascular diseases. Clinical symptoms are very diverse, including non-specific symptoms such as growth retardation, scleroderma, alopecia, and osteoporosis, as well as hypertension and cardiovascular diseases that occur in childhood and adolescence due to accelerated vascular aging. In patients with HGPS, MR angiography is recommended for early diagnosis of asymptomatic stroke or vascular changes and to assess increased risk of cerebrovascular disease. We report the second domestic case of HGPS confirmed by genetic analysis in a 5-year-old child with typical clinical features, and the first English case report in Korea to present brain MR angiography findings.
KEYWORD
Progeria, Hutchinson-Gilford progeria syndrome, Cerebrovascular Disorders, Atherosclerosis, Magnetic Resonance Angiography
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