Huang Shan, Liang Yan, Wu Wei, Fu Xi, Liao Lihong, Luo Xiaoping
Department of Pediatrics, Tongji Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology, Wuhan 430030, China.
Department of Pediatrics, Tongji Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology, Wuhan 430030, China. Email:
Zhonghua Er Ke Za Zhi. 2014 Feb;52(2):112-6.
To explore clinical, radiographical and genetic characteristics of classical Hutchinson-Gilford progeria syndrome (HGPS).
Data of a case of HGPS diagnosed at Tongji Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology was analyzed and related literature was reviewed.
At the age of 8 months, the affected-infant presented with characteristic manifestation such as short stature, low weight, frontal bossing, alopecia, prominent scalp veins, micrognathia with a vertical midline groove in the chin, sclerodermatous skin, knee joints contracture with a horse-riding stance, and limited range of movement of ankle joints. Blood test showed blood platelet count (416-490) ×10(9)/L. Lower extremities MRI showed reduced subcutaneous fat. LMNA gene analysis showed that the affected-infant carried typical heterozygous mutation: c. 1824C>T (p. G608G), while his parents were normal. At the age of 13 months, X-rays showed short distal phalanges and clavicles with acro-osteolysis. After following up for 15 months, his appearance of progeria became more apparent. As far as we know, there are only 2 cases of classical HGPS confirmed by gene analysis in China.
Classical HGPS should be considered when infants appeared with sclerodermatous skin. Genetic analysis could help to diagnose classical HGPS as early as possible and avoid unnecessary investigations. In addition, affected-infants need to be long term followed-up and provided genetic counseling.
探讨经典型早老症（哈钦森-吉尔福德早衰综合征，HGPS）的临床、影像学及遗传学特征。
分析华中科技大学同济医学院附属同济医院确诊的1例HGPS患儿的资料，并复习相关文献。
该患儿8月龄时出现典型表现，如身材矮小、体重低、前额突出、脱发、头皮静脉明显、小颌畸形伴颏部垂直中线沟、硬皮病样皮肤、膝关节挛缩呈骑马姿势、踝关节活动范围受限。血常规示血小板计数（416～490）×10⁹/L。下肢MRI示皮下脂肪减少。LMNA基因分析显示患儿携带典型杂合突变：c.1824C>T（p.G608G），其父母正常。13月龄时X线显示远端指骨和锁骨短小伴肢端骨质溶解。随访15个月后，其早老面容更加明显。据我们所知，国内经基因分析确诊的经典型HGPS仅有2例。
当婴儿出现硬皮病样皮肤时应考虑经典型HGPS。基因分析有助于尽早诊断经典型HGPS并避免不必要的检查。此外，对患儿需要进行长期随访并提供遗传咨询。
