Detection of Cerebrovascular Disease in a Child with Hutchinson-Gilford Progeria Syndrome Using MR Angiography: A Case Report.
Jae Ho LeeHa Young LeeMyung Kwan LimYoung Hye KangPublished in: Journal of the Korean Society of Radiology (2022)
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.
Keyphrases
- case report
- optical coherence tomography
- computed tomography
- contrast enhanced
- cardiovascular disease
- magnetic resonance
- mental health
- blood pressure
- atrial fibrillation
- depressive symptoms
- systemic sclerosis
- magnetic resonance imaging
- postmenopausal women
- white matter
- interstitial lung disease
- physical activity
- blood brain barrier
- resting state
- loop mediated isothermal amplification
- arterial hypertension