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

2012 ◽  
Vol 2012 ◽  
pp. 1-3
Author(s):  
Gian Paolo Giuliari ◽  
Ama Sadaka ◽  
Maria Angelica Cortez ◽  
Adalgisa Corona
Keyword(s):  
Clinical Examination ◽  
Delayed Diagnosis ◽  
Facial Asymmetry ◽  
Ocular Involvement ◽  
Ocular Surgery ◽  
Ocular Symptoms ◽  
Weber Syndrome ◽  
Poor Treatment ◽  
Primary Means ◽  
Sturge Weber Syndrome

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.

scholarly journals Dyke Davidoff Masson Syndrome – A Case Report

2013 ◽  
Vol 3 (2) ◽  
pp. 106-109
Author(s):  
Md. Abu Taher ◽  
Fattah Ahma ◽  
Md. Anwar Pasha ◽  
Md. Mofazzal Sharif ◽  
Md. Mohit Ul Alam ◽  
...  
Keyword(s):  
Cerebral Hemisphere ◽  
Facial Asymmetry ◽  
Rare Condition ◽  
Clinical History ◽  
Final Diagnosis ◽  
Convulsive Therapy ◽  
Right Cerebral Hemisphere ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome ◽  
Control Seizure

A 10 year old male child reported to paediatric neurology OPD of BIRDEM General Hospital with the complaints of weakness of left side of body, seizure and facial asymmetry for 2 years. He was on regular anti convulsive therapy and failed to control seizure. General examination revealed no significant abnormality neither delayed mile stones of development happened. Neurological examination revealed left sided spastic hemiparesis, brisk tendon reflexes and extensor planter on left side. With detailed history and examination he was diagnosed as a case of infantile seizure and undergone CT scan of brain followed by MRI scan. Both the reports revealed severe atrophy of right cerebral hemisphere, thinning of cortical gyri, widening of sulci and dilatation of right lateral ventricle with ipsilateral midline shift and was concluded as hemiatrophy of right cerebral hemisphere with suspicion of Dyke Davidoff Masson Syndrome (DDMS), Hemimegalencephaly and Sturge-Weber syndrome. Dyke-Davidoff-Masson syndrome (DDMS) is a rare condition characterized by asymmetric cerebral hemispheric growth with unilateral atrophy, ipsilateral compensatory osseous hypertrophy, hyperpneumatization of the paranasal sinuses and mastoid cells, and contralateral paresis. Varying degrees of hemiparesis, hemiplegia, seizures, mental retardation, and facial asymmetry can be associated with DDMS. Considering clinical history and imaging findings, final Diagnosis was Dyke Davidoff Masson Syndrome. Birdem Med J 2013; 3(2): 196-109 DOI: http://dx.doi.org/10.3329/birdem.v3i2.17215

Sturge-Weber Syndrome Patient Registry: Delayed Diagnosis and Poor Seizure Control

2019 ◽  
Vol 215 ◽  
pp. 158-163.e6 ◽  
Author(s):  
Soonweng Cho ◽  
Biswajit Maharathi ◽  
Karen L. Ball ◽  
Jeffrey A. Loeb ◽  
Jonathan Pevsner
Keyword(s):  
Seizure Control ◽  
Delayed Diagnosis ◽  
Patient Registry ◽  
Syndrome Patient ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome

scholarly journals Incidence of Sturge–Weber syndrome and associated ocular involvement in Olmsted County, Minnesota, United States

2020 ◽  
Vol 41 (2) ◽  
pp. 108-124 ◽  
Author(s):  
Heba T. Rihani ◽  
Lauren A. Dalvin ◽  
David O. Hodge ◽  
Jose S. Pulido
Keyword(s):  
United States ◽  
Ocular Involvement ◽  
Olmsted County ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome

scholarly journals Ocular Manifestations of the Sturge–Weber Syndrome

2021 ◽  
Author(s):  
Kiana Hassanpour ◽  
Ramin Nourinia ◽  
Ebrahim Gerami ◽  
Ghavam Mahmoudi ◽  
Hamed Esfandiari
Keyword(s):  
Early Onset ◽  
Late Onset ◽  
Subretinal Fluid ◽  
Congenital Glaucoma ◽  
Ocular Involvement ◽  
Success Rates ◽  
Glaucoma Filtration Surgery ◽  
Ocular Abnormality ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome

Sturge–Weber syndrome (SWS) or encephalotrigeminal angiomatosis is a non-inherited congenital disorder characterized by neurologic, skin, and ocular abnormalities. A somatic activating mutation (R183Q) in the GNAQ gene during early embryogenesis has been recently recognized as the etiology of vascular abnormalities in SWS. Approximately, half of the patients with SWS manifest ocular involvement including glaucoma as the most common ocular abnormality followed by choroidal hemangioma (CH). The underlying pathophysiology of glaucoma in SWS has not been completely understood yet. Early onset glaucoma comprising 60% of SWS glaucoma have lower success rates after medical and surgical treatments compared with primary congenital glaucoma. Primary angle surgery is associated with modest success in the early onset SWS glaucoma while the success rate significantly decreases in late onset glaucoma. Filtration surgery is associated with a higher risk of intraoperative and postoperative choroidal effusion and suprachoroidal hemorrhage. CH is reported in 40–50% of SWS patients. The goal of treatment in patients with CH is to induce involution of the hemangioma, with reduction of subretinal and intraretinal fluid and minimal damage to the neurosensory retina. The decision for treating diffuse CHs highly depends on the patient’s visual acuity, the need for glaucoma surgery, the presence of subretinal fluid (SRF), its chronicity, and the potential for visual recovery.

Outcome of infants with unilateral Sturge-Weber syndrome and early onset seizures

2000 ◽  
Vol 42 (11) ◽  
pp. 756-759 ◽  
Author(s):  
Uri Kramer ◽  
Esther Kahana ◽  
Zamir Shorer ◽  
Bruria Ben-Zeev
Keyword(s):  
Early Onset ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome
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