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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 analyze the imaging data of 3 rare familial pedigrees of Han nationality in Guangxi province and discuss the imaging characteristics of this family of elder people. Methods The clinical data, CT, X-ray and MRI imaging data of 3 elderly patients with familial ancestry in Guangxi Han nationality were collected and their imaging features were summarized. Results The proband was a 7-year-old girl and the other 2 were the younger sister (3 years old) and younger brother (1 year old) of the proband. Proximal cervical vertebrae show the ratio of calvarial and mandibular incompatibility, mandibular hypoplasia, clavicle disappeared, pear-shaped chest. 3 patients with both hands are lateral examination showed both fingers flexion of the knuckles, osteoporosis; elderly patients with both hands are lateral growth retardation of the skeletal age, distal osteolysis obvious. Three cases of pulmonary CT scan results did not prompt the performance of pulmonary fibrosis, but the proband’s thorax and lungs were smaller than normal children, and chest wall thickness thinner than normal children, brain MRI showed an increase in the proportion of cerebral skull, pituitary Normal size. CONCLUSIONS: Alzheimer’s disease has characteristic imaging changes including osteoporosis, small mandible, shortening of the distal clavicle and phalanges, finger deformity and pear-shaped chest, which are of great significance for the diagnosis and differential diagnosis of the disease .