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.
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http://dx.doi.org/10.1016/j.ijscr.2024.110407 | DOI Listing |
Int J Surg Case Rep
November 2024
KIST Medical College and Teaching Hospital, TU, Nepal.
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.
View Article and Find Full Text PDFRev Med Chil
November 2023
Sección de Nefrología, Servicio de Medicina, Hospital Naval Almirante Nef, Viña del Mar, Chile.
The spontaneous disappearance of a segment of bone in a short period without the existence of a tumoral disease that justifies it is an exceptional event. We report the case of an older adult in whom the upper epiphysis of the right humerus and part of the acromion disappeared in a period of 3 weeks in the absence of a malignant tumor. Bone biopsy revealed osteoclasts, lymphatic vessels, and blood vessels.
View Article and Find Full Text PDFAcad Pediatr
August 2024
Abigail Wexner Research Institute at Nationwide Children's Hospital (JM Wells, DJ Chisolm), Center for Child Health Equity and Outcomes Research, Columbus, Ohio.
J Clin Invest
June 2024
Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.
Trisomy 21 (T21), a recurrent aneuploidy occurring in 1:800 births, predisposes to congenital heart disease (CHD) and multiple extracardiac phenotypes. Despite a definitive genetic etiology, the mechanisms by which T21 perturbs development and homeostasis remain poorly understood. We compared the transcriptome of CHD tissues from 49 patients with T21 and 226 with euploid CHD (eCHD).
View Article and Find Full Text PDFKans J Med
March 2024
University of Kansas School of Medicine-Kansas City, Kansas City, KS.
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