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具有家族性发病的脊柱动脉瘤样骨囊肿。

Aneurysmal bone cyst of the spine with familial incidence.

作者信息

DiCaprio M R, Murphy M J, Camp R L

机构信息

Departments of Orthopaedics and Rehabilitation and Pathology, Yale University School of Medicine, New Haven, CT 06520-8071, USA.

出版信息

Spine (Phila Pa 1976). 2000 Jun 15;25(12):1589-92. doi: 10.1097/00007632-200006150-00021.

DOI:10.1097/00007632-200006150-00021
PMID:10851111
Abstract

STUDY DESIGN

A report of two cases of aneurysmal bone cysts of the spine occurring in a father and daughter.

OBJECTIVE

To present an unusual finding of familial incidence of aneurysmal bone cyst and review the literature.

SUMMARY OF BACKGROUND DATA

Aneurysmal bone cysts are benign, expanding, locally aggressive lesions. Up to 20% of cases involve the spine. The cause of primary aneurysmal bone cysts remains unclear. There have been three previous reports of a familial incidence supporting the importance of a hereditary component in the cause of aneurysmal bone cysts.

METHODS

A 36-year-old man and a 7-year-old girl were diagnosed with aneurysmal bone cyst involving the spine by clinical manifestations, radiographic features, and histologic evaluation.

RESULTS

The father remains recurrence- and symptom-free 6 years after primary resection. Five months after surgery, the daughter was found to have recurrent disease by magnetic resonance imaging and underwent a second procedure within 1 year of the primary resection.

CONCLUSION

The occurrence of a primary aneurysmal bone cyst in two family members, occurring at adjacent vertebral levels, is suggestive of a hereditary component to the formation of primary aneurysmal bone cyst.

摘要

研究设计

一份关于发生在一对父女身上的脊柱动脉瘤样骨囊肿的两例病例报告。

目的

呈现动脉瘤样骨囊肿家族性发病这一不寻常发现并回顾相关文献。

背景资料总结

动脉瘤样骨囊肿是良性、膨胀性、局部侵袭性病变。高达20%的病例累及脊柱。原发性动脉瘤样骨囊肿的病因仍不清楚。此前已有三篇关于家族性发病的报告,支持了遗传因素在动脉瘤样骨囊肿病因中的重要性。

方法

一名36岁男性和一名7岁女孩通过临床表现、影像学特征和组织学评估被诊断为累及脊柱的动脉瘤样骨囊肿。

结果

父亲在初次切除术后6年无复发且无症状。术后5个月,女儿通过磁共振成像发现有复发病变,并在初次切除术后1年内接受了第二次手术。

结论

两名家庭成员在相邻椎体水平发生原发性动脉瘤样骨囊肿,提示原发性动脉瘤样骨囊肿的形成存在遗传因素。

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