Sturge Weber Syndrome: Abnormalities in the Brain, Skin and Eyes from Birth - A Case Report

Sturge-Weber Syndrome (SWS – encephalotrigeminal angiomatosis) is a rare non-hereditary congenital condition. It develops in the early foetal period, at the stage when the embryo head is being formed, as a result of a random somatic mutation of the GNAQ gene due to unknown reasons. The main symptom is the formation of congenital angiomas, especially in the area of capillaries, in the leptomeninges in the brain, and along the course of the trigeminal nerve. Such angiomas may also be present on lips, and in the whole oral cavity: on its bottom, palate and gingivae. It may lead to serious malocclusions and breathing problems. Aim. This article aims to present problems regarding orthodontic treatment of patients with Sturge-Weber syndrome, using an example of a 7-year-old female patient. Case report. A 7-year-old girl with all signs of this syndrome, namely glaucoma, epilepsy, neurological disorders, cutis marmorata telangiectatica congenita and after sanitation of the oral cavity, had hygiene procedures and exercises with a vestibul plate introduced. Two attempts to take impressions for appliances failed due to patient’s anxiety reactions. Conclusions. This case shows difficulties that may be faced by an orthodontist when treating patients with Sturge-Weber syndrome. In this case, namely type I in the Roach scale, due to neurological disorders it was necessary to take special precautions in relation to procedures introduced and to avoid stress in a patient. It makes orthodontic treatment difficult. (Witanowska J, Laskowska M, Zadurska M. Sturge-Weber syndrome. Case report. Orthod Forum 2018; 14: 143-9).

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71. Sturge–Weber syndrome + cortical dysplasia. A dual pathology case report

Clinical Neurophysiology ◽

10.1016/j.clinph.2016.05.346 ◽

2016 ◽

Vol 127 (9) ◽

pp. e319

Author(s):

Areli Rosario Suarez-Roman ◽

Enoe Cruz-Martinez ◽

Yokary Amor Mellado-Ortiz ◽

Ernesto Ramirez-Navarrete ◽

Paul Shkurovich-Bialik

Keyword(s):

Case Report ◽

Cortical Dysplasia ◽

Dual Pathology ◽

Weber Syndrome ◽

Sturge Weber Syndrome

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Bilateral Sturge Weber Syndrome- a rare case report

Nepalese Journal of Ophthalmology ◽

10.3126/nepjoph.v5i1.7841 ◽

2013 ◽

Vol 5 (1) ◽

pp. 129-132 ◽

Cited By ~ 1

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

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Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome

Neurology Genetics ◽

10.1212/nxg.0000000000000236 ◽

2018 ◽

Vol 4 (3) ◽

pp. e236 ◽

Cited By ~ 10

Author(s):

Michael S. Hildebrand ◽

A. Simon Harvey ◽

Stephen Malone ◽

John A. Damiano ◽

Hongdo Do ◽

...

Keyword(s):

Brain Tissue ◽

Molecular Mechanism ◽

Digital Pcr ◽

Droplet Digital Pcr ◽

Cutaneous Manifestations ◽

Weber Syndrome ◽

Sturge Weber Syndrome ◽

Low Levels ◽

The Brain ◽

Molecular Evaluation

ObjectiveTo determine whether the GNAQ R183Q mutation is present in the forme fruste cases of Sturge-Weber syndrome (SWS) to establish a definitive molecular diagnosis.MethodsWe used sensitive droplet digital PCR (ddPCR) to detect and quantify the GNAQ mutation in tissues from epilepsy surgery in 4 patients with leptomeningeal angiomatosis; none had ocular or cutaneous manifestations.ResultsLow levels of the GNAQ mutation were detected in the brain tissue of all 4 cases—ranging from 0.42% to 7.1% frequency—but not in blood-derived DNA. Molecular evaluation confirmed the diagnosis in 1 case in which the radiologic and pathologic data were equivocal.ConclusionsWe detected the mutation at low levels, consistent with mosaicism in the brain or skin (1.0%–18.1%) of classic cases. Our data confirm that the forme fruste is part of the spectrum of SWS, with the same molecular mechanism as the classic disease and that ddPCR is helpful where conventional diagnosis is uncertain.

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STURGE WEBER SYNDROME- A RARE CASE REPORT ORIGINAL

10.36106/ijar/9502925 ◽

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

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