Journal of Genetic Syndromes & Gene Therapy
Open Access
ISSN: ISSN: 2157-7412
ISSN: ISSN: 2157-7412
Leonardo Cano Cevallos and Ivan Cherrez Ojeda
Universidad Cat�³lica Santiago de Guayaquil, Ecuador
Posters & Accepted Abstracts: J Genet Syndr Gene Ther
Background & Aim: Gorham-Stout Syndrome is a rare idiopathic non-malignant disorder characterized by recurrent, progressive osteolysis. It may affect any bone, but commonly involves mandible, shoulder and pelvic girdle, each in roughly 20% of all the cases. The disease affects one or contiguous bones. Our purpose is to highlight the relevance of an extraordinary progression time in four months of massive osteolysis of the shoulder. Case Presentation: A 12-year-old-boy is admitted by complete loss of function of the right arm and showing a deformity at level of right clavicle. His history was characterized by progressive weakness and pain on right shoulder 4 months ago. Biopsy results showed numerous congestive capillaries surrounded by fibrous tissue and blood material, also trabecular areas with irregular edges, perivascular inflammation and atrophy signs suggestive of angiomatosis confirmed the diagnosis of the disease. Conclusion: The time of progression of the disease in a normal pattern is at least one or two years within the beginning of suggestive symptoms. We consider that our case is particularly important because the progression to total destruction of elements of shoulder�s patient was four months in a young patient.
Leonardo Cano Cevallos is an Ecuadorian Medical student attending final year of Medical School at Universidad Católica Santiago de Guayaquil, Ecuador. He has experience as Teaching Assistant of Hematology for 2 years and is a part of the research team of Respira Lab Research Group.
Email: leonardo_cc92@hotmail.com