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<p>Hutchinson-Gilford progeria syndrome (HGPS) is a rare autosomal dominant disorder characterised by premature ageing, with an average life expectancy of 14.6 years. We report a case of HGPS associated with a typical C. 1824&#xa0;C &gt; T (P. Gly608Gly) mutation in the 11th exon of the LMNA gene in a 21-year-old woman. The patient presented with a three-year history of progressive exertional dyspnea that acutely worsened over the five days preceding admission. She had a short stature (weight 13&#xa0;kg, height 85&#xa0;cm), typical craniofacial features, and scleroderma-like skin changes. Cardiovascular evaluation showed signs of premature ageing (ejection fraction 30.8%). This patient is the oldest among all reported cases of HGPS associated with typical mutations. We describe rapid progression of HGPS in this patient and recommend that physicians should consider coronary heart disease in the differential diagnosis of chest pain in patients with HGPS, regardless of age.</p>

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Rare case of longevity in Hutchinson-Gilford progeria syndrome and literature review

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年10月7日

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  • Xiao-ling Cai,
  • Hang Chen,
  • Xue-qin Lin,
  • Hong Zhang,
  • Yi-fei Xiang,
  • Ming-xiang Wu,
  • Kai-yang Lin

摘要

Hutchinson-Gilford progeria syndrome (HGPS) is a rare autosomal dominant disorder characterised by premature ageing, with an average life expectancy of 14.6 years. We report a case of HGPS associated with a typical C. 1824 C > T (P. Gly608Gly) mutation in the 11th exon of the LMNA gene in a 21-year-old woman. The patient presented with a three-year history of progressive exertional dyspnea that acutely worsened over the five days preceding admission. She had a short stature (weight 13 kg, height 85 cm), typical craniofacial features, and scleroderma-like skin changes. Cardiovascular evaluation showed signs of premature ageing (ejection fraction 30.8%). This patient is the oldest among all reported cases of HGPS associated with typical mutations. We describe rapid progression of HGPS in this patient and recommend that physicians should consider coronary heart disease in the differential diagnosis of chest pain in patients with HGPS, regardless of age.