骨斑点症影像诊断(附1家族4代6例和散发3例报告)

目的 :分析骨斑点症的影像学表现及其诊断要点。方法 :回顾性分析9例骨斑点症患者的临床及影像学资料,其中家族性病例6例,散发性病例3例。家族性病例中,男4例,女2例,年龄10~63岁,平均28岁;1例临床表现为左膝关节疼痛、活动受限3年,5例无临床症状。散发性病例中,男2例,女1例,年龄25~44岁,平均33.7岁;3例均有明确的外伤史,随访6~12个月。观察9例患者的影像学结果。结果:6例家族性骨斑点症影像学表现为骨内多发边缘清晰、密度均匀的圆形、类圆形的致密结节,大小不一,发好于管状骨的干骺端、骨骺及腕骨、跗骨。3例散发性骨斑点症的影像学表现与家族性病例相仿,6~12个月后复查X线片示病灶无明显变化。结论:骨斑点症的典型影像学特征,如骨内多发斑点状致密灶,边界清楚,双侧基本对称,病灶位于骨端松质内,骨干通常不受累等,对疾病的正确诊断有一定的临床价值。

Imaging diagnosis of osteopoiknosis:a report of 6 cases in four generations of one family and 3 sporadic cases

Objective: To analyze the imaging features of osteopoikilosis and its diagnosis knowledge. Methods: The imaging data of 9 patients with osteopoikilosis were analyzed retrospectively,including 6 familial cases and 3 sporadic cases. In 6 familial cases,there were 4 males and 2 females with an average age of 28 years old ranging from 10 to 63 years. Clinical manifestations of 1 familial case were left knee pain and limitation of activity for 3 years,and other 5 cases without clinical manifestation. In 3 sporadic cases,there were 2 males and 1 female with an average age of 33.7 years old ranging from 25 to 44 years. Three sporadic cases had obvious injury history with following up from 6 to 12 months. All imaging results of 9 cases were observed. Results: The imaging data of 6 familial osteopoikilosis showed the multiple round or oval nodes within bone with clear margins,uniform density,different size. The occurrence of the hyperostotic spots preferentially localized in the epiphyses and metaphyses of the long bones,and carpus and tarus. X-ray features of 3 sporadic osteopoikilosis were similar to that of 6 familial cases and for 6 to 12 months follow-up X-ray features were unchanged. Conclusion: The imaging features of osteopoikilosis are relatively specific such as the multiple mottling dense focal within bone with clear border and bilateral symmetry,and the focus located on cancellous bone and the diaphyses usually is unaffected. The imaging is a valuable examination for the accurate diagnosis of osteopoikilosis.