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...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2012-01-01
|
| Series: | Case Reports in Ophthalmological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2012/509693 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832562969289949184 |
|---|---|
| author | Gian Paolo Giuliari Ama Sadaka Maria Angelica Cortez Adalgisa Corona |
| author_facet | Gian Paolo Giuliari Ama Sadaka Maria Angelica Cortez Adalgisa Corona |
| author_sort | Gian Paolo Giuliari |
| collection | DOAJ |
| 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. |
| format | Article |
| id | doaj-art-a5c1075262eb48ffb3c54c017d00093b |
| institution | Kabale University |
| issn | 2090-6722 2090-6730 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Ophthalmological Medicine |
| spelling | doaj-art-a5c1075262eb48ffb3c54c017d00093b2025-02-03T01:21:19ZengWileyCase Reports in Ophthalmological Medicine2090-67222090-67302012-01-01201210.1155/2012/509693509693Presumed Sturge Weber Syndrome in a Haitian Boy: A Case of Delayed DiagnosisGian Paolo Giuliari0Ama Sadaka1Maria Angelica Cortez2Adalgisa Corona3Centro de Cirugía Oftalmológica (CECOF), Caracas, VenezuelaMassachusetts Eye and Ear Infirmary, Boston, MA, USACentro de Cirugía Oftalmológica (CECOF), Caracas, Venezuela“Dr. Elías Santana” Hospital, Santo Domingo, Dominican RepublicPurpose. 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.http://dx.doi.org/10.1155/2012/509693 |
| spellingShingle | Gian Paolo Giuliari Ama Sadaka Maria Angelica Cortez Adalgisa Corona Presumed Sturge Weber Syndrome in a Haitian Boy: A Case of Delayed Diagnosis Case Reports in Ophthalmological Medicine |
| 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 |
| url | http://dx.doi.org/10.1155/2012/509693 |
| work_keys_str_mv | AT gianpaologiuliari presumedsturgewebersyndromeinahaitianboyacaseofdelayeddiagnosis AT amasadaka presumedsturgewebersyndromeinahaitianboyacaseofdelayeddiagnosis AT mariaangelicacortez presumedsturgewebersyndromeinahaitianboyacaseofdelayeddiagnosis AT adalgisacorona presumedsturgewebersyndromeinahaitianboyacaseofdelayeddiagnosis |