Detection of Cerebrovascular Disease in a Child with Hutchinson-Gilford Progeria Syndrome Using MR Angiography: A Case Report

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 osteoporo...

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Main Authors: Jae Ho Lee, Ha Young Lee, Myung Kwan Lim, Young Hye Kang
Format: Article
Language:English
Published: The Korean Society of Radiology 2022-11-01
Series:대한영상의학회지
Online Access:https://doi.org/10.3348/jksr.2022.0051
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author Jae Ho Lee
Ha Young Lee
Myung Kwan Lim
Young Hye Kang
author_facet Jae Ho Lee
Ha Young Lee
Myung Kwan Lim
Young Hye Kang
author_sort Jae Ho Lee
collection DOAJ
description 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.
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spelling doaj.art-e46b3fd4d50c4dfca9d5f1e2bb8555082022-12-22T04:15:35ZengThe Korean Society of Radiology대한영상의학회지2288-29282022-11-0183613601365Detection of Cerebrovascular Disease in a Child with Hutchinson-Gilford Progeria Syndrome Using MR Angiography: A Case ReportJae Ho LeeHa Young LeeMyung Kwan LimYoung Hye KangHutchinson-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.https://doi.org/10.3348/jksr.2022.0051
spellingShingle Jae Ho Lee
Ha Young Lee
Myung Kwan Lim
Young Hye Kang
Detection of Cerebrovascular Disease in a Child with Hutchinson-Gilford Progeria Syndrome Using MR Angiography: A Case Report
대한영상의학회지
title Detection of Cerebrovascular Disease in a Child with Hutchinson-Gilford Progeria Syndrome Using MR Angiography: A Case Report
title_full Detection of Cerebrovascular Disease in a Child with Hutchinson-Gilford Progeria Syndrome Using MR Angiography: A Case Report
title_fullStr Detection of Cerebrovascular Disease in a Child with Hutchinson-Gilford Progeria Syndrome Using MR Angiography: A Case Report
title_full_unstemmed Detection of Cerebrovascular Disease in a Child with Hutchinson-Gilford Progeria Syndrome Using MR Angiography: A Case Report
title_short Detection of Cerebrovascular Disease in a Child with Hutchinson-Gilford Progeria Syndrome Using MR Angiography: A Case Report
title_sort detection of cerebrovascular disease in a child with hutchinson gilford progeria syndrome using mr angiography a case report
url https://doi.org/10.3348/jksr.2022.0051
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