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剖析一次罕见病例:一位88岁女性的戈勒姆病

"Unraveling a rare encounter: Gorham's disease in an 88-year-old female".

作者信息

Bajracharya Gaurav Bir, Maharjan Basanta, Bhandari Pramod

机构信息

KIST Medical College and Teaching Hospital, TU, Nepal.

KIST Medical College and Teaching Hospital, TU, Nepal.

出版信息

Int J Surg Case Rep. 2024 Nov;124:110407. doi: 10.1016/j.ijscr.2024.110407. Epub 2024 Oct 5.

DOI:10.1016/j.ijscr.2024.110407
PMID:39388985
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11562405/
Abstract

INTRODUCTION AND IMPORTANCE

Gorham syndrome, or Gorham-Stout disease, is a rare disorder characterized by spontaneous and persistent bone resorption without any known cause, leading to severe complications [2]. The clinical presentation of this condition varies widely, complicating efforts in diagnosis and treatment. In our case report, we present the story of an 88-year-old woman who bravely and gracefully faced the challenges caused by Gorham syndrome. Despite prior treatments, her condition worsened, emphasizing the need for tailored approaches.

CASE PRESENTATION

The patient's symptoms extended to bilateral shoulders, affecting daily living. Physical examination revealed tenderness, swelling, and muscle wasting. Her blood investigation showed vitamin D deficiency and imaging confirmed complete humeral head resorption.

CASE DISCUSSION

Her case highlights the limitations of standard therapies. Variable presentations underscore the importance of thorough evaluation. Radiographic evidence revealed severe bone destruction, emphasizing the disability caused by Gorham syndrome.

CONCLUSION

Recognition of the disease as early as possible, correct diagnosis, and effective management are essential. This patient's story highlights the importance of the multi-faceted treatment approach for patients with Gorham Syndrome: medical treatment, supportive care, compassion, and tenacity to improve the quality of life.

摘要

引言与重要性

戈勒姆综合征,即戈勒姆-斯托特病,是一种罕见的疾病,其特征为不明原因的自发性持续性骨质吸收,可导致严重并发症[2]。该病症的临床表现差异很大,给诊断和治疗带来困难。在我们的病例报告中,讲述了一位88岁女性勇敢且优雅地面对戈勒姆综合征所带来挑战的故事。尽管之前接受过治疗,但其病情仍恶化,这凸显了采取针对性治疗方法的必要性。

病例介绍

患者症状累及双侧肩部,影响日常生活。体格检查发现压痛、肿胀和肌肉萎缩。血液检查显示维生素D缺乏,影像学检查证实肱骨头完全吸收。

病例讨论

她的病例凸显了标准疗法的局限性。临床表现的多样性强调了全面评估的重要性。影像学证据显示严重的骨质破坏,突出了戈勒姆综合征所导致的残疾。

结论

尽早认识该疾病、正确诊断并进行有效管理至关重要。该患者的故事凸显了对戈勒姆综合征患者采取多方面治疗方法的重要性:药物治疗、支持性护理、关怀以及改善生活质量的坚韧精神。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/30b3/11562405/fc19a25d701f/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/30b3/11562405/0d33d26683d1/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/30b3/11562405/0bc183f51504/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/30b3/11562405/bb3eb95aac2f/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/30b3/11562405/1588427bf973/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/30b3/11562405/fc19a25d701f/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/30b3/11562405/0d33d26683d1/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/30b3/11562405/0bc183f51504/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/30b3/11562405/bb3eb95aac2f/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/30b3/11562405/1588427bf973/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/30b3/11562405/fc19a25d701f/gr5.jpg

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1
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本文引用的文献

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Gorham-Stout syndrome presenting in a 5-year-old girl with a successful bisphosphonate therapeutic effect.戈勒姆-斯托特综合征在一名5岁女孩中出现,双膦酸盐治疗效果成功。
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Report of a rare case of gorham-stout disease of both shoulders: bisphosphonate treatment and shoulder replacement.双侧肩部戈谢病罕见病例报告:双膦酸盐治疗与肩关节置换术
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