Presumed Sturge Weber Syndrome in a Haitian Boy : A Case of Delayed Diagnosis
Joint Authors
Corona, Adalgisa
Giuliari, Gian Paolo
Sadaka, Ama
Cortez, Maria Angelica
Source
Case Reports in Ophthalmological Medicine
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-03-27
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Giuliari, Gian Paolo& Sadaka, Ama& Cortez, Maria Angelica& Corona, Adalgisa. 2012. Presumed Sturge Weber Syndrome in a Haitian Boy : A Case of Delayed Diagnosis. Case Reports in Ophthalmological Medicine،Vol. 2012, no. 2012, pp.1-3.
https://search.emarefa.net/detail/BIM-477342
Modern Language Association (MLA)
Giuliari, Gian Paolo…[et al.]. Presumed Sturge Weber Syndrome in a Haitian Boy : A Case of Delayed Diagnosis. Case Reports in Ophthalmological Medicine No. 2012 (2012), pp.1-3.
https://search.emarefa.net/detail/BIM-477342
American Medical Association (AMA)
Giuliari, Gian Paolo& Sadaka, Ama& Cortez, Maria Angelica& Corona, Adalgisa. Presumed Sturge Weber Syndrome in a Haitian Boy : A Case of Delayed Diagnosis. Case Reports in Ophthalmological Medicine. 2012. Vol. 2012, no. 2012, pp.1-3.
https://search.emarefa.net/detail/BIM-477342
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-477342