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Presumed Sturge Weber Syndrome in a Haitian Boy: A Case of Delayed Diagnosis

Purpose. To report an untypical presentation of a presumed Sturge-Weber Syndrome (SWS), and to highlight the indispensable value of thorough clinical examination as primary means for proper diagnosis and management. Methods. Chart review. Results. A 7 year-old boy, with a long history of ocular symp...

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Autores principales: Giuliari, Gian Paolo, Sadaka, Ama, Cortez, Maria Angelica, Corona, Adalgisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3350223/
https://www.ncbi.nlm.nih.gov/pubmed/22606496
http://dx.doi.org/10.1155/2012/509693
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author Giuliari, Gian Paolo
Sadaka, Ama
Cortez, Maria Angelica
Corona, Adalgisa
author_facet Giuliari, Gian Paolo
Sadaka, Ama
Cortez, Maria Angelica
Corona, Adalgisa
author_sort Giuliari, Gian Paolo
collection PubMed
description Purpose. To report an untypical presentation of a presumed Sturge-Weber Syndrome (SWS), and to highlight the indispensable value of thorough clinical examination as primary means for proper diagnosis and management. Methods. Chart review. Results. A 7 year-old boy, with a long history of ocular symptoms and an unspecified ocular surgery, presents with a painful blind left eye. Based on clinical examination, the suspicion of SWS was raised. The presentation was not typical in the sense that no evident port-wine stain was observed on the face. However, facial asymmetry and gum discoloration were guiding clinical clues to pursue further investigations. Unfortunately, due to poor treatment response, the patient underwent enucleation. Tissue pathology revealed diffuse choroidal hemangiomas, consistent with the diagnosis of SWS. Conclusion. SWS presents with hamartomatous malformations and venous dilation affecting the skin, central nervous system and eye. The ocular involvement may vary, with the most common complications being glaucoma, buphthalmos and diffuse choroidal hemangiomas. This case report helps remind physicians of the importance of a thorough clinical examination, and highlights the ophthalmologists' responsibility of examining beyond the eye.
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spelling pubmed-33502232012-05-17 Presumed Sturge Weber Syndrome in a Haitian Boy: A Case of Delayed Diagnosis Giuliari, Gian Paolo Sadaka, Ama Cortez, Maria Angelica Corona, Adalgisa Case Rep Ophthalmol Med Case Report Purpose. To report an untypical presentation of a presumed Sturge-Weber Syndrome (SWS), and to highlight the indispensable value of thorough clinical examination as primary means for proper diagnosis and management. Methods. Chart review. Results. A 7 year-old boy, with a long history of ocular symptoms and an unspecified ocular surgery, presents with a painful blind left eye. Based on clinical examination, the suspicion of SWS was raised. The presentation was not typical in the sense that no evident port-wine stain was observed on the face. However, facial asymmetry and gum discoloration were guiding clinical clues to pursue further investigations. Unfortunately, due to poor treatment response, the patient underwent enucleation. Tissue pathology revealed diffuse choroidal hemangiomas, consistent with the diagnosis of SWS. Conclusion. SWS presents with hamartomatous malformations and venous dilation affecting the skin, central nervous system and eye. The ocular involvement may vary, with the most common complications being glaucoma, buphthalmos and diffuse choroidal hemangiomas. This case report helps remind physicians of the importance of a thorough clinical examination, and highlights the ophthalmologists' responsibility of examining beyond the eye. Hindawi Publishing Corporation 2012 2012-03-27 /pmc/articles/PMC3350223/ /pubmed/22606496 http://dx.doi.org/10.1155/2012/509693 Text en Copyright © 2012 Gian Paolo Giuliari et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Giuliari, Gian Paolo
Sadaka, Ama
Cortez, Maria Angelica
Corona, Adalgisa
Presumed Sturge Weber Syndrome in a Haitian Boy: A Case of Delayed Diagnosis
title Presumed Sturge Weber Syndrome in a Haitian Boy: A Case of Delayed Diagnosis
title_full Presumed Sturge Weber Syndrome in a Haitian Boy: A Case of Delayed Diagnosis
title_fullStr Presumed Sturge Weber Syndrome in a Haitian Boy: A Case of Delayed Diagnosis
title_full_unstemmed Presumed Sturge Weber Syndrome in a Haitian Boy: A Case of Delayed Diagnosis
title_short Presumed Sturge Weber Syndrome in a Haitian Boy: A Case of Delayed Diagnosis
title_sort presumed sturge weber syndrome in a haitian boy: a case of delayed diagnosis
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3350223/
https://www.ncbi.nlm.nih.gov/pubmed/22606496
http://dx.doi.org/10.1155/2012/509693
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