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Childhood soft-tissue sarcoma associated with Sotos syndrome

We report a case of a 4-year-old female with Sotos syndrome (cerebral gigantism) whose initial clinical, pathologic, and imaging presentation was considered suspicious for a vascular malformation of her left thigh. Following 17 months of attempted treatment, excision of the supposed vascular malform...

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Detalles Bibliográficos
Autores principales: Hill, Destin E., Roberts, Catherine C., Inwards, Carrie Y., Sim, Franklin H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898217/
https://www.ncbi.nlm.nih.gov/pubmed/27307854
http://dx.doi.org/10.2484/rcr.v5i1.384
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author Hill, Destin E.
Roberts, Catherine C.
Inwards, Carrie Y.
Sim, Franklin H.
author_facet Hill, Destin E.
Roberts, Catherine C.
Inwards, Carrie Y.
Sim, Franklin H.
author_sort Hill, Destin E.
collection PubMed
description We report a case of a 4-year-old female with Sotos syndrome (cerebral gigantism) whose initial clinical, pathologic, and imaging presentation was considered suspicious for a vascular malformation of her left thigh. Following 17 months of attempted treatment, excision of the supposed vascular malformation was performed. Pathology tests revealed high-grade sarcoma. The delay of diagnosis resulted in an above-the-knee amputation for definitive treatment. If this etiology had been considered earlier in this patient’s clinical course, her treatment could have commenced sooner, and amputation of her leg may have been avoided. While soft-tissue sarcoma arising in childhood is rare, malignancy should be given consideration when evaluating a mass in a young child with characteristic physical examination findings of Sotos syndrome, since these children have an elevated risk of malignancy over the general population.
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spelling pubmed-48982172016-06-15 Childhood soft-tissue sarcoma associated with Sotos syndrome Hill, Destin E. Roberts, Catherine C. Inwards, Carrie Y. Sim, Franklin H. Radiol Case Rep Article We report a case of a 4-year-old female with Sotos syndrome (cerebral gigantism) whose initial clinical, pathologic, and imaging presentation was considered suspicious for a vascular malformation of her left thigh. Following 17 months of attempted treatment, excision of the supposed vascular malformation was performed. Pathology tests revealed high-grade sarcoma. The delay of diagnosis resulted in an above-the-knee amputation for definitive treatment. If this etiology had been considered earlier in this patient’s clinical course, her treatment could have commenced sooner, and amputation of her leg may have been avoided. While soft-tissue sarcoma arising in childhood is rare, malignancy should be given consideration when evaluating a mass in a young child with characteristic physical examination findings of Sotos syndrome, since these children have an elevated risk of malignancy over the general population. Elsevier 2015-11-06 /pmc/articles/PMC4898217/ /pubmed/27307854 http://dx.doi.org/10.2484/rcr.v5i1.384 Text en © 2010 The Authors. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Article
Hill, Destin E.
Roberts, Catherine C.
Inwards, Carrie Y.
Sim, Franklin H.
Childhood soft-tissue sarcoma associated with Sotos syndrome
title Childhood soft-tissue sarcoma associated with Sotos syndrome
title_full Childhood soft-tissue sarcoma associated with Sotos syndrome
title_fullStr Childhood soft-tissue sarcoma associated with Sotos syndrome
title_full_unstemmed Childhood soft-tissue sarcoma associated with Sotos syndrome
title_short Childhood soft-tissue sarcoma associated with Sotos syndrome
title_sort childhood soft-tissue sarcoma associated with sotos syndrome
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898217/
https://www.ncbi.nlm.nih.gov/pubmed/27307854
http://dx.doi.org/10.2484/rcr.v5i1.384
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