Gorham病临床及影像特点分析：附11例报告及文献复习

Clinical and imaging features of Gorham disease：a report of eleven cases and review of literature

目的：探讨Gorham病的临床及影像特点。方法回顾性分析11例Gorham病的临床及影像资料，综合国内文献，总结其临床及影像特点。本组11例患者均符合Wells和Gray提出的诊断标准。11例均拍摄X线平片；CT检查4例；MRI检查5例，其中1例行MRI增强检查。结果男7例、女4例；年龄16～66岁，中位年龄32岁。6例病变累及手部，1例累及尺桡骨，1例累及髋臼，3例累及颌面骨。主要临床症状为病变部位疼痛、肿胀及活动受限，7例伴局部肌肉萎缩。X线平片示受累骨质变细、皮质毛糙6例，局灶性密度减低5例，大块骨质吸收6例，骨质吸收残端变尖1例，病理骨折1例。CT示受累骨变细、皮质毛糙4例，局限性密度减低1例，大块骨质吸收3例，伴局部肌肉萎缩、肌间脂肪间隙增宽2例（萎缩性骨质吸收）。MRI示受累骨质T1WI呈低信号，T2WI呈高信号，信号可不均匀；受累骨质周围软组织在T2WI上4例呈弥漫水肿样高信号，1例呈弥漫的混杂的高信号软组织肿物，但相邻肌肉萎缩，肌间隙增宽。92例文献荟萃显示男63例，女29例。72%（66/92）发病年龄在10～40岁。单骨发病24例；双骨或多骨发病68例，其中多中心发病9例、单中心发病59例。病变好发居前4位的依次为肩带骨中心、骨盆、颌面骨和手部骨骼。43例出现肌肉萎缩，8例出现软组织肿块。结论当发现与临床症状不符的一骨或连续多骨的萎缩性骨质吸收，无硬化或骨膜反应，相邻肌肉萎缩，要想到Gorham病的可能。

Objective To evaluate the clinical and radiological features of Gorham disease. Methods Clinical and radiological features of Gorham disease were retrospectively analyzed by reviewing the eleven cases from our hospital and the cases reported in the domestic literature in the past fifty years. The diagnoses of all these 11 patients were in accordance with the diagnostic criteria established by Wells and Gray et al. All patients had X？ray plain film, four had CT scan and five had MR examination, with one had additional contrast？enhanced MR examination. Results There were 7 males and 4 females, age ranged from 16 to 66 years with a median age of 32 years. There were six cases involving hand, one involving ulnar and radial bones, one involving acetabulum and three involving jaw bones. The main clinical manifestations were pain, swelling, limited activity, and focal muscular atrophy occurred in 7 cases. On X？ray plain films, the affected bone became thin and the cortexes were not smooth and became coarse in 6 cases. Local lucent area was seen in 5 cases and massive bone absorption was seen in 6 cases. The residual bones showed a tapering appearance in 1 case. Pathological fracture occurred in 1 case. On CT scans, the affected bone became thin and the cortexes became coarse in 4 cases. Local lucent area was seen in 1 case. Massive bone absorption was seen in 3 cases. The adjacent muscular atrophy and widened intermuscular fat space occurred in 2 cases （atrophic bone absorption）. On MRI, normal signal intensity of bone marrow disappeared＆amp;nbsp;and demonstrated low signal on T1WI and high signal on T2WI. The signal could be homogeneous or heterogeneous. There were widespread strip and patchy high signal areas in the soft tissue around the absorption areas in 4 cases, which resembled the edema？like signal. In 1 case, there was irregular widespread soft tissue mass around the absorption areas with heterogeneous high signal on T2WI. The adjacent muscle showed atrophy, and the intermuscular fat space became wide. There were a total of 92 cases reported cases in the literature including our 11 cases. There were 63 males and 29 females. The onset age ranged from 10 to 40 years in 66/92（72%）cases. The lesion affected one bone in 24 cases, affected two or more bones in 68 cases, out of which 9 cases had single center distribution, 59 cases had multiple centers distribution. Pectoral girdle, pelvis, maxillofacial bones, and hand were the most common sites of involvement in decreasing order. Forty three cases had muscle atrophy and 8 cases had soft tissue mass. Conclusion Gorham disease should be considered when atrophic bone absorption in one bone or continuous bones occurs that does not match clinical symptoms, with soft tissue atrophy but no bone sclerosis or periosteal reaction in the osteolytic areas.