An unusual case of acoria in Sturge–Weber syndrome

2018 ◽  
Vol 30 (1) ◽  
pp. NP5-NP6
Author(s):  
Miriam Rahhal-Ortuño ◽  
Manuel Díaz-Llopis ◽  
Luis Alonso-Muñoz ◽  
MS Rahhal
Keyword(s):  
Unusual Case ◽  
Clinical Manifestations ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome ◽  
Nevus Flammeus

We present an unusual case of Sturge–Weber syndrome whose main clinical manifestations were nevus flammeus, seizures, glaucoma, and acoria. To our knowledge, the combination of Sturge–Weber syndrome and acoria has not been previously reported.

scholarly journals Bilateral Sturge Weber Syndrome- a rare case report

2013 ◽  
Vol 5 (1) ◽  
pp. 129-132 ◽  
Author(s):  
P Singh ◽  
S Singh
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Unusual Case ◽  
The Other ◽  
Advanced Stage ◽  
Weber Syndrome ◽  
Rare Case Report ◽  
The Face ◽  
Bilateral Condition ◽  
Sturge Weber Syndrome

Background: Sturge-Weber syndrome is a rare congenital neuro- oculo- cutaneous disorder. Objective: To report a very rare unusual case of bilateral manifestation of Sturge Weber syndrome. Case: We report an unusual case of a 17-year-old female with advanced stage of bilateral glaucoma associated with facial nevus extending to the other half of the face as well and bilateral intracranial calcification. Conclusion: Sturge -Weber syndrome can manifest as a bilateral condition. Nepal J Ophthalmol 2013; 5(9):129-132 DOI: http://dx.doi.org/10.3126/nepjoph.v5i1.7841

scholarly journals Surgical treatment of drug resistant epilepsy in Sturge-Weber syndrome: review of the literature and clinical case presentation

2019 ◽  
Vol 11 (1) ◽  
pp. 53-62
Author(s):  
G. S. Ibatova ◽  
S. K. Akshulakov ◽  
S. M. Malyshev ◽  
R. G. Khachatryan ◽  
T. M. Alekseeva ◽  
...  
Keyword(s):  
Surgical Treatment ◽  
Medical Records ◽  
Clinical Manifestations ◽  
Epileptic Seizures ◽  
Positive Outcomes ◽  
Class Iii ◽  
Case Presentation ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome ◽  
Drug Resistant Epilepsy

The paper addresses the relatively rare inherited neurodermal disorder – Sturge-Weber syndrome that can manifest in epileptic seizures. We describe updated concepts, epidemiology, etiology, pathogenesis, clinical manifestations, and surgical treatment of the disease. We examined medical records of 21 patients (aged from 1 to 11 years) with Sturge-Weber syndrome treated over the period of 1996-2016. After surgical treatment of 10 patients (five cases with hemispheretomy and five – with multifocal resection), positive outcomes (Engel class I, II) were found in 70% of cases, and negative (Engel class III, IV) – in 20% of cases. Оne child suddenly died during epileptic seizures. In non-operated children (age from 2 to 5 years) under our observation, an improvement was noted in six cases, no changes – in three cases, and a further progression of the disease – in three cases. In this article, we analyze two of these cases in detail.

Port-Wine Stain (Nevus Flammeus) in Sturge-Weber Syndrome

2018 ◽  
pp. 1406-1408
Author(s):  
Jason E. Hale ◽  
Sumayya J. Almarzouqi ◽  
Michael L. Morgan ◽  
Andrew G. Lee
Keyword(s):  
Port Wine Stain ◽  
Port Wine ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome ◽  
Nevus Flammeus

scholarly journals STURGE-WEBER SYNDROME: A CASE REPORT

2018 ◽  
Vol 11 (3) ◽  
pp. 3
Author(s):  
Janani R ◽  
Kiruthika S ◽  
Arunachalam Ramachandran ◽  
Kumaresan A
Keyword(s):  
Developmental Delay ◽  
Clinical Manifestations ◽  
Cerebral Atrophy ◽  
Physiotherapy Treatment ◽  
Physical Diagnosis ◽  
Medical College ◽  
Developmental Age ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome ◽  
The Right

  To report a clinical case of Sturge-Weber syndrome (SWS) 1 year 8-month-old male child reported to Saveetha Medical College, Physiotherapy Department presented with complaints of difficulty in sitting, standing, and walking. Computed tomography brain revealed unilateral calcification and cerebral atrophy on the right side. Physical diagnosis revealed the child had left hemiparesis with developmental delay. The child had a developmental delay with a motor developmental age of 2 months. As clinical manifestations of SWS are wide, it leads to multidisciplinary approaches. Physiotherapist’s knowledge is important for early diagnosis and to provide an adequate physiotherapy treatment.

An Unusual Case of Acute Glaucoma in Sturge-Weber Syndrome

2015 ◽  
Vol 25 (6) ◽  
pp. e103-e105 ◽  
Author(s):  
Alessandro Lambiase ◽  
Flavio Mantelli ◽  
Giuseppe Mannino ◽  
Santi Maria Recupero
Keyword(s):  
Unusual Case ◽  
Weber Syndrome ◽  
Acute Glaucoma ◽  
Sturge Weber Syndrome

scholarly journals Sturge-Weber syndrome coexisting with polydactyly: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Hongxi Wang ◽  
Nana Dong ◽  
Li Tan ◽  
Chukai Huang
Keyword(s):  
Intraocular Pressure ◽  
Case Report ◽  
Port Wine ◽  
Case Presentation ◽  
Port Wine Stains ◽  
Weber Syndrome ◽  
Left Neck ◽  
Sturge Weber Syndrome ◽  
Nevus Flammeus ◽  
Underlying Pathogenesis

Abstract Background Sturge-Weber syndrome (SWS) is a sporadic congenital disorder, characterized by unilateral facial nevus flammeus associated with ipsilateral glaucoma, choroidal angioma and leptomeningeal hemangiomas. SWS can comorbid with other disorders in some patients, however, there has been no prior described case of SWS and polydactyly occurring in the same patient. Case presentation A 15-year-old girl with diagnosis of SWS presented to our hospital. She had bilateral glaucoma and extensive port-wine stains distributing in bilateral faces, left neck and left upper limb. Meanwhile, the patient was noted to demonstrate the superfluous digit attaching on the left thumb and was diagnosed as polydactyly. Trabeculectomy, with intraoperative application of mitomycin C and postoperative subconjunctival injections of 5-fluorouracil, was successful in controlling the intraocular pressure in both eyes. Conclusions We report a case with bilateral SWS coexisting with unilateral polydactyly, which, to our knowledge, has not been recognized previously and adds further evidence to the existing literature. In view of the rare concurrence of SWS and polydactyly, the etiology is unclear and further investigation is required to explore the underlying pathogenesis.

scholarly journals Sturge-Weber syndrome: Clinico-neuroradiological features and treatment profile

2021 ◽  
Vol 18 (3) ◽  
pp. 49-54
Author(s):  
Anirban Chatterjee ◽  
Malay Kumar Sinha  
Keyword(s):  
Genetic Disorder ◽  
Early Age ◽  
Neurodevelopmental Delay ◽  
Gradual Loss ◽  
Weber Syndrome ◽  
The Face ◽  
Sturge Weber Syndrome ◽  
Lower Intelligence ◽  
Nevus Flammeus

Introduction:  Sturge Weber syndrome (SWS) is a rare, nonhereditary genetic disorder. SWS belongs to a diverse group of Neurocutaneous disorders. A somatic mutation in the early development of cells in SWS patients causes the formation of a congenital capillary vascular malformation. SWS is characterized by nevus flammeus on the face (also called Port-Wine Birthmark), brain (leptomeningeal angioma), and eyes (glaucoma). Methods and Materials: We present three patients diagnosed with Sturge Weber syndrome who attended a teaching hospital between 2013 to 2016. The clinical, neuroradiological features and treatment of SWS patients were reviewed retrospectively from medical records. Results: Two males and females with SWS were reviewed. The facial nevus flammeus was unilateral in one patient and bilateral in two patients. The extensive nevus flammeus including the face, trunk, and upper limb was found in one patient. Epilepsy, neurodevelopmental delay, and intellectual disability were the most common presentation in the series. Episodic hemiparesis was manifested in one patient. Levetiracetam and oxcarbazepine, either single or combined, were used in every SWS patient (n=3). Six months seizure-free was obtained in a patient with SWS with combined anticonvulsant therapy.  Conclusion: Drug-refractory and early-age epilepsy is associated with lower intelligence level that consequently affects poor social skill and quality of life in the patients with SWS. Sudden or gradual loss of vision is also a threat for SWS patients. Diagnosis at birth or during early age, multidisciplinary intervention, and follow-up is a must to improve absolute outcomes in the patients with SWS.

An unusual case of sturge-weber syndrome

Pathology ◽  
1984 ◽  
Vol 16 (4) ◽  
pp. 462-465 ◽  
Author(s):  
Virginia R. Billson ◽  
G.L. Gillam
Keyword(s):  
Unusual Case ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome

scholarly journals Sturge-Weber Syndrome. Study of 55 Patients

2008 ◽  
Vol 35 (3) ◽  
pp. 301-307 ◽  
Author(s):  
Ignacio Pascual-Castroviejo ◽  
Samuel-Ignacio Pascual-Pascual ◽  
Ramón Velazquez-Fragua ◽  
Juán Viaño
Keyword(s):  
Mental Retardation ◽  
Brain Lesion ◽  
Poor Response ◽  
Cerebral Lesions ◽  
Upper Eyelid ◽  
Gainful Employment ◽  
Aesthetic Appearance ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome ◽  
Nevus Flammeus

Purpose:To review the clinical and neuroimaging features of a large series of patients with Sturge-Weber syndrome (SWS) seen over a 40-year period.Methods:Fifty-five patients with SWS (30 males and 25 females), were studied between 1965 and 2004. Results of neurological and ophthalmological examinations, electroencephalographic, and neuroimaging studies were reviewed. All patients were seen by one of the authors (I. P-C).Results:Epilepsy, hemiparesis, mental retardation and ocular problems were the most frequent and severe features of patients with Sturge-Weber syndrome in this series. The facial nevus flammeus was unilateral in 35 (63.5%) patients, bilateral in 17 (31%) and absent in 3 (5.5%) of the patients with leptomeningeal angiomas. Seven (41%) of the 17 patients with bilateral nevus flammeus had unilateral leptomeningeal angiomas. Seizures occurred in 47 patients (85.5%). Complete seizure control was obtained in 20 patients (42.5%), but in 2 of these 20 patients seizures were controlled only after lobectomy. All patients with unilateral or bilateral upper eyelid nevus flammeus had ipsilateral, unilateral or bilateral choroid-retinal angiomas. Only 20 (36%) of the 55 patients had low-normal or borderline intelligence (IQs<70). No relationship was observed between the size of the facial nevus flammeus and the severity of the brain lesion.Conclusions:Epilepsy, hemiparesis, mental retardation and ocular problems were the most frequent and severe features of patients with Sturge-Weber syndrome in this series. Cerebral lesions followed a progressive course during early childhood, but not later. Early surgical treatment controlled the seizures but other neurological problems such as hemiparesis and intellectual deficits showed a less satisfactory response. Early onset of seizures and poor response to medical treatment, bilateral cerebral involvement and unilateral severe lesions were indicative of a poor prognosis. Limited intelligence and social skills, poor aesthetic appearance and seizures complicated the integration of SWS patients. These features must be addressed in order for the patients improve social interactions, obtain gainful employment and achieve a better quality of life.

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