中国全科医学
中國全科醫學
중국전과의학
Chinese General Practice
2015年
29期
3619-3623
,共5页
吴华裕%覃霞%舒艳%张伟峰%李福记%舒伟%马军%胡启平%袁志刚%林有坤%方玲
吳華裕%覃霞%舒豔%張偉峰%李福記%舒偉%馬軍%鬍啟平%袁誌剛%林有坤%方玲
오화유%담하%서염%장위봉%리복기%서위%마군%호계평%원지강%림유곤%방령
衰老,过早%早老症%体层摄影术,X 线%体层摄影术,螺旋计算机%磁共振成像
衰老,過早%早老癥%體層攝影術,X 線%體層攝影術,螺鏇計算機%磁共振成像
쇠로,과조%조로증%체층섭영술,X 선%체층섭영술,라선계산궤%자공진성상
Aging,premature%Hutchinson - Gilford progeria syndrome%Tomography,X - ray%Tomography,spiral computed%Magnetic resonance imaging
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。
目的：分析廣西漢族1箇罕見早老癥傢繫3例患者的影像學資料，探討該傢繫早老癥患者的影像學特徵。方法收集廣西漢族1箇早老癥傢繫3例患者的臨床資料及 CT、X 線、MRI 影像學檢查資料，對其影像學特點進行總結。結果先證者為7歲女孩，另2例患者分彆為先證者的妹妹（3歲）和弟弟（1歲）。先證者頸部正側位片示顱蓋骨與下頜骨比例不協調，下頜骨髮育不全，鎖骨消失，梨形胸。3例患者雙手正側位片檢查均顯示雙手指指關節屈麯畸形，骨質疏鬆；年長的2例患者雙手正側位片提示骨齡髮育遲緩，指骨遠耑骨質溶解明顯。3例患者肺部 CT 平掃結果均未提示肺部纖維化錶現，但先證者胸廓及肺髒均小于正常兒童，且胸壁脂肪厚度較正常兒童薄，顱腦 MRI 顯示腦顱骨比例增大，垂體大小正常。結論早老癥患者具有特徵性的影像學改變，包括骨質疏鬆癥、小下頜、鎖骨及指骨末耑缺失變短、手指指關節畸形、梨形胸等，對該病的診斷和鑒彆診斷具有重要意義。
목적：분석엄서한족1개한견조로증가계3례환자적영상학자료，탐토해가계조로증환자적영상학특정。방법수집엄서한족1개조로증가계3례환자적림상자료급 CT、X 선、MRI 영상학검사자료，대기영상학특점진행총결。결과선증자위7세녀해，령2례환자분별위선증자적매매（3세）화제제（1세）。선증자경부정측위편시로개골여하합골비례불협조，하합골발육불전，쇄골소실，리형흉。3례환자쌍수정측위편검사균현시쌍수지지관절굴곡기형，골질소송；년장적2례환자쌍수정측위편제시골령발육지완，지골원단골질용해명현。3례환자폐부 CT 평소결과균미제시폐부섬유화표현，단선증자흉곽급폐장균소우정상인동，차흉벽지방후도교정상인동박，로뇌 MRI 현시뇌로골비례증대，수체대소정상。결론조로증환자구유특정성적영상학개변，포괄골질소송증、소하합、쇄골급지골말단결실변단、수지지관절기형、리형흉등，대해병적진단화감별진단구유중요의의。
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.
