Encephalotrigeminal Angiomatosis: A Review with Emphasis on Head and Neck Manifestations

Neurographics ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 166-174
Author(s):  
B.R. Larsen ◽  
M.S. Rosztoczy ◽  
D.C. Van Tassel ◽  
C.R. Larson ◽  
S.A. Avedikian ◽  
...  
Keyword(s):  
Head And Neck ◽  
Soft Tissues ◽  
Clinical Findings ◽  
Imaging Features ◽  
Facial Soft Tissue ◽  
Vascular Abnormalities ◽  
Weber Syndrome ◽  
The Face ◽  
Sturge Weber Syndrome ◽  
Tissue Abnormalities

Encephalotrigeminal angiomatosis, also known as Sturge-Weber syndrome or Sturge-Weber-Dimitri disease, is a sporadic congenital neurocutaneous syndrome characterized by angiomas of the face, eyes, and meninges. The typical clinical findings include seizures, a port-wine facial nevus, hemiparesis, and developmental delay. The classic intracranial imaging features of Sturge-Weber syndrome include cerebral hemispheric atrophy, hypervascularity and/or calcification of the cortex, and ipsilateral choroid plexus enlargement. Extracranial findings primarily include the vascular abnormalities of the ocular and facial soft tissues as well as hypertrophy of the calvarial and maxillofacial osseous structures. Additionally, we report involvement of the extraocular muscles, salivary glands, and lacrimal glands, findings that have not been well described in the literature. While a developmental venous pathology underlying Sturge-Weber syndrome has been proposed resulting in many of the findings, the mechanism behind the facial soft-tissue abnormalities and the clinical sequelae associated with these glandular abnormalities is still uncertain.Learning Objective: To recognize typical clinical and various imaging manifestations of Sturge-Weber syndrome, including head and neck and intracranial imaging findings

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 Double trouble: Bilateral cerebral involvement in Sturge-Weber syndrome

2015 ◽  
Vol 19 (1) ◽  
Author(s):  
Narosha Adroos ◽  
Janet Smal ◽  
Farhana E. Suleman
Keyword(s):  
Mental Retardation ◽  
Intracranial Calcification ◽  
Clinical Correlation ◽  
Bilateral Disease ◽  
Intractable Seizures ◽  
Weber Syndrome ◽  
Cerebral Involvement ◽  
The Face ◽  
Sturge Weber Syndrome ◽  
Prognostic Implications

Sturge-Weber syndrome, also known as encephalotrigeminal angiomatosis or meningofacial angiomatosis, is characterised in its classical form by a congenital, usually unilateral, ‘portwine stain’ (capillary naevus) on the face, convulsions, typical intracranial calcification and some degree of mental retardation and hemiparesis. The clinical correlation of intractable seizures with the presence of bilateral intracranial disease has management and prognostic implications, thus making the presence of bilateral disease an important factor to all those involved in the management of the child with Sturge-Weber syndrome.

STURGE WEBER SYNDROME- A RARE CASE REPORT ORIGINAL

2021 ◽  
pp. 4-5
Author(s):  
Om Prakash Singh ◽  
Vikas Kumar ◽  
Pushp Kant Tiwari
Keyword(s):  
Rare Case ◽  
Signs And Symptoms ◽  
Port Wine ◽  
Occipital Area ◽  
Weber Syndrome ◽  
Rare Case Report ◽  
The Face ◽  
Sturge Weber Syndrome ◽  
The Brain ◽  
Embryonic Vessels

Sturge-Weber Syndrome (SWS) is one of the encephalotrigeminal angiomatosis and one of the important segmental vascular neurocutaneous disorders .The occurrence is not very uncommon and the prevalence is 1:20000 to 1:50000.(1) SWS occurs due to the presence of residual embryonic vessels . The various signs and symptoms include capillary malformation in the face a port wine birthmark and similar malformation in the brain involving leptomeniges as well as blood vessels of the eye causing glaucoma. The patient presents with seizures , hemiparesis and stroke like symptoms, headaches and developmental delay.(2) The imaging nding in SWS children is the calcication in the parietal and occipital area of the brain. The EEG ndings in SWS are the attenuation and the excess of slow activities.We are presenting here a rare case of , a fourteen year old male child who presented to our emergency department with status epilepticus. The aim of presenting this case is to share the classical presentation and the challenges involved in the management

scholarly journals Use of Intralesional Bleomycin for Oral Hemangioma of Sturge-Weber Syndrome

2015 ◽  
Vol 6 (1) ◽  
pp. 17-19
Author(s):  
Devayani Shinde ◽  
Yogesh G Dabholkar ◽  
Akanksha A Saberwal ◽  
Haritosh Kamalakar Velankar ◽  
Adip K Shetty
Keyword(s):  
Vascular Malformations ◽  
Accurate Diagnosis ◽  
Port Wine Stain ◽  
Port Wine ◽  
Weber Syndrome ◽  
Neurocutaneous Disorder ◽  
The Face ◽  
Sturge Weber Syndrome ◽  
Venous Angiomas ◽  
Head Neck

ABSTRACT Sturge-Weber syndrome (SWS) or encephalotrigeminal angiomatosis is a rare neurocutaneous disorder characterized with vascular malformations and capillary venous angiomas involving the face, choroid of the eye and leptomeninges with port wine stain, seizures activity and mental retardation. In this paper we report a case of a patient affected by Sturge-Weber syndrome presenting with tongue hemangioma and emphasize the importance of an accurate diagnosis and management in the clinical practice. How to cite this article Shinde D, Dabholkar YG, Saberwal AA, Velankar HK, Shetty AK. Use of Intralesional Bleomycin for Oral Hemangioma of Sturge-Weber Syndrome. Int J Head Neck Surg 2015;6(1):17-19.

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.

scholarly journals Progressive retinal vessel malformation in a premature infant with Sturge-Weber syndrome: a case report and a literature review of ocular manifestations in Sturge-Weber syndrome

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Zhengping Hu ◽  
Jian Cao ◽  
Eun Young Choi ◽  
Yun Li
Keyword(s):  
Retinopathy Of Prematurity ◽  
Retinal Vessel ◽  
Male Infant ◽  
Clinical Findings ◽  
Choroidal Hemangioma ◽  
Ocular Manifestations ◽  
Weber Syndrome ◽  
Postmenstrual Age ◽  
Sturge Weber Syndrome ◽  
Endothelial Growth Factor

Abstract Background Sturge-Weber syndrome is a disorder marked by a distinctive facial capillary malformation, neurological abnormalities, and ocular abnormalities such as glaucoma and choroidal hemangioma. Case presentation We report a case of progressively formed retinal vessel malformation in a premature male infant with Sturge-Weber syndrome and retinopathy of prematurity, after treatment with intravitreal anti-vascular endothelial growth factor (VEGF). The baby was born at 30 weeks gestation with a nevus flammeus involving his left eyelids and maxillary area. On postmenstrual age week 39, he received intravitreal anti-VEGF. Diffuse choroidal hemangioma became evident at 40 weeks, with the classic “tomato catsup fundus” appearance. These clinical findings characterized Sturge-weber syndrome. He presented with posterior retinal vessel tortuosity and vein-to-vein anastomoses at 44 weeks. Conclusion This is a rare case of documented progression of retinal vessel malformations in a patient with Sturge-Weber syndrome and retinopathy of prematurity.

scholarly journals Periodontal Manifestations and Unusual Radiographic Features in a Patient with Sturge-Weber Syndrome: A Case Report

2018 ◽  
Vol 6 (1) ◽  
pp. 28-34
Author(s):  
Mohammad Taghi Chitsazi ◽  
Adileh Shirmohammadi ◽  
Nasrin Rahmanpour ◽  
Monir Moradzadeh Khiyavi
Keyword(s):  
Congenital Glaucoma ◽  
Port Wine ◽  
Capillary Malformation ◽  
Gingival Enlargement ◽  
Weber Syndrome ◽  
Vascular Proliferation ◽  
The Face ◽  
Sturge Weber Syndrome ◽  
Hands And Feet ◽  
Developmental Condition

The Sturge-Weber syndrome or encephalotrigeminal angiomatosis is a rare neurological and congenital disorder with a frequency of 1 in 50,000 births. This syndrome is a nonhereditary developmental condition and is characterized by the presence of congenital capillary malformation and a hamartomatous vascular proliferation involving the face (port-wine stain or facial birthmark), sometimes skull and the tissues of brain, jaws, oral soft and hard tissues and rarely other body organs. Seizures, mental retardation, and cortical calcification (tram-tracks) and congenital glaucoma may be seen in this syndrome. We report here a 40-year-old female with Sturge-Weber syndrome associated with bilateral cutaneous capillary malformation on her face, neck, hands and feet and also gingival enlargement.

scholarly journals Sturge Weber Syndrome- A Rare Congenital Neuro-cutaneous Disease

2016 ◽  
Vol 5 (2) ◽  
pp. 41-51
Author(s):  
Wahida Sultana ◽  
Sufia Nasrin Rita ◽  
SM Anwar Sadat
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Cerebral Cortex ◽  
Trigeminal Nerve ◽  
Soft Tissues ◽  
Oral Manifestations ◽  
Oral Manifestation ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome ◽  
Venous Angiomas

Sturge Weber Syndrome (SWS) or Encephalotrigeminal Angiomatosis is specifically a rare non hereditary congenital sporadic disorder of elusive etiology. It belongs to a group of disorders collectively known as the phakomatoses (“motherspot” diseases). It has a vast continuum of cutaneous, neurologic, ophthalmic and oral manifestations. It consists of congenital hamartomatous malformations that may affect the eye, skin, and central nervous system (CNS) at different times, characterized by the combination of venous angiomas of leptomeninges, face, jaws and oral soft tissues. The classic pathognomonic features of disease include angioma of the leptomeninges extending to cerebral cortex with ipsilateral angiomatous lesions, unilateral facial nevus after one division of trigeminal nerve and epileptic convulsions. The most characteristic oral manifestation is represented by gingival hemangiomatous lesion usually restricted to ipsilateral maxilla or mandible. We report a case of Sturge Weber Syndrome with its characteristic oral manifestations and review of relevant prevailing literature.Update Dent. Coll. j: 2015; 5 (2): 47-51

scholarly journals Anesthetic Challenges of a Child with Sturge–Weber Syndrome for Epilepsy Surgery: A Case Report

2019 ◽  
Vol 06 (01) ◽  
pp. 037-039
Author(s):  
Roshan Kurian ◽  
Karen R. Lionel ◽  
Ramamani Mariappan
Keyword(s):  
Vascular Malformations ◽  
Port Wine ◽  
Congenital Disease ◽  
Anesthesia Management ◽  
Massive Blood Loss ◽  
Weber Syndrome ◽  
The Face ◽  
Sturge Weber Syndrome ◽  
Venous Angiomas ◽  
Intracranial Vasculature

AbstractSturge–Weber syndrome is a rare congenital disease, also called encephalotrigeminal angiomatosis, caused by persistence of transitory primordial arteriovenous connections of the fetal intracranial vasculature. It is characterized by vascular malformations with capillary venous angiomas that involve the face, choroid of the eye, and leptomeninges. The main clinical features of this syndrome are port-wine stains, glaucoma, convulsions, and angiomas of the airway. Anesthesia management is directed toward anticipating a difficult airway, avoiding trauma to the hemangioma during airway manipulation, preventing the rise in the intracranial and intraocular pressures, anticipating and managing massive blood loss and the complications associated with massive blood transfusion, and avoiding factors that might trigger a seizure such as hypoxia, hypercarbia, hypotension, hypoglycemia, and hyperthermia.

Sign in / Sign up

Export Citation Format

Share Document