广西汉族早老症家系三例病例研究——影像学特征分析

Study of Three Cases of Hutchinson-Gilford Progeria Syndrome in A Guangxi Han Family: Analysis of Imaging Feature

目的分析广西汉族1个罕见早老症家系3例患者的影像学资料,探讨该家系早老症患者的影像学特征。方法收集广西汉族1个早老症家系3例患者的临床资料及CT、X线、MRI影像学检查资料,对其影像学特点进行总结。结果先证者为7岁女孩,另2例患者分别为先证者的妹妹(3岁)和弟弟(1岁)。先证者颈部正侧位片示颅盖骨与下颌骨比例不协调,下颌骨发育不全,锁骨消失,梨形胸。3例患者双手正侧位片检查均显示双手指指关节屈曲畸形,骨质疏松;年长的2例患者双手正侧位片提示骨龄发育迟缓,指骨远端骨质溶解明显。3例患者肺部CT平扫结果均未提示肺部纤维化表现,但先证者胸廓及肺脏均小于正常儿童,且胸壁脂肪厚度较正常儿童薄,颅脑MRI显示脑颅骨比例增大,垂体大小正常。结论早老症患者具有特征性的影像学改变,包括骨质疏松症、小下颌、锁骨及指骨末端缺失变短、手指指关节畸形、梨形胸等,对该病的诊断和鉴别诊断具有重要意义。

Objective To study the imaging data of three cases of Hutchinson-Gilford Progeria Syndrome（ HGPS）in Guangxi Han family,and to explore the patients＇ imaging features. Methods We collected the clinical data,CT,X-ray and MRI of three HGPS patients in Guangxi and made a summary of the imaging features. Results The proband was a 7-year-old girl,and the other two patients were her younger sister（ 3 years old） and brother（ 1 years old）. The proband neck radiograph showed abnormal scale between the calvarium and the mandible,mandibular hypoplasia,clavicle disappearing and pear shaped chest. The X-ray of 3 patients＇ hands showed that all the 3 cases were with flexion deformity in digintal joints and osteoporosis,and two older patients showed retardation of bone age and obvious osteolysis in distal phalanx. The lung CT scaning results of the 3 patients did not show lung fibrosis,but the chest and lung of the proband were smaller than normal children,and the fat thickness of the chest was thinner than normal girls. The brain MRI imaging of the proband showed the proportion of cerebral cranium became larger,but the pituitary size was normal. Conclusion The characteristic changes of the imaging occur in HGPS patients, including osteoporosis, mandibular hypoplasia, clavicle and distal phalanx disappearing and shortening,flexion deformity of digital joints and pear shaped chest. The findings have great significance on the diagnosis and differential diagnosis of progeria.