Update in the Understanding, Diagnosis, and Management of Sturge Weber Syndrome: Case Report
Published on: 24th August, 2023
Sturge-Weber Syndrome (SWS) is a congenital, vascular, neurocutaneous, uncommon disease associated with facial angiomas port wine birthmark (PWB) or “nevus flammeus”, cerebral vascularity alterations (leptomeningeal vascular malformation), and ocular disorders. It is the third most common neurocutaneous syndrome after neurofibromatosis and tuberous sclerosis. GNAQ R183Q is the most frequent related mutation, caused by a postzygotic, somatic, gain-of-function. 75% of patients present seizures during the first year of life, mainly focal motor seizures, with or without consciousness impairment.We present the case of a 33-year-old female with a diagnosis of SWS, with refractory seizures that started at 4 months of age. In this admission, she presented upper and lower respiratory tract infections that culminated in a convulsive status epilepticus (CSE), the reason for which she required sedation and advanced airway management with adjustment of the anti-seizure medication (ASM). An electroencephalogram (EEG) was performed that reported epileptic activity, as well as an imaging study with data suggestive of calcification in the frontal and right parietal region, compatible with vascular malformation.
Search by University/Institution
Enter your University/Institution to find colleagues at HSPI.
Ensuring author's satisfaction with
- Friendly and hassle-free publication process
- Less production time of articles
- Constructive peer-review
- Enhancing journal reputation
- Regular feedback system
- Quick response to authors' queries
Most Viewed Keywords
- deep vein thrombosis, antithrombotic treatment,intravascular leiomyoma
- RMGIC
- One-work-free-afternoon
- Ascorbate
- Allergic patients
- Alcohol
- Bile duct injury
- Teratology of fallot
- Jatropha dioica sessé ex cerv
- AUDPC: Area Under Disease Progress Curve
- Tailings solutions
- Climate change
- Kalanchoe pinnata
- Shoulder dystocia
- Potentilla fulgens
- Alcoholic steatohepatitis
- Organic waste
- Polyneuropathy
- Gossypiboma
- Cucumber
Search Articles by Country
Get all latest articles in all Heighten Science Publications Inc journals by country.
Testmonials
The editorial process was quickly done. The galley proof was sent within a week after being accepted for publication. The editorial team was very helpful and responded promptly.
India
Rohit Kulshrestha
Publishing with the International Journal of Clinical and Experimental Ophthalmology was a rewarding experience as review process was thorough and brisk. Their visibility online is second to none as t...
University of Port Harcourt Teaching Hospital, Nig...
Dr. Elizabeth A Awoyesuku
I would like to thank this journal for publishing my Research Article. Something I really appreciate about this journal is, they did not take much time from the day of Submission to the publishing dat...
Ayush Chandra
The submission is very easy and the time from submission to response from the reviewers is short. Correspondence with the journal is nice and rapid.
Catrin Henriksson
We appreciate the fact that you decided to give us full waiver for the applicable charges and approve the final version. You did an excellent job preparing the PDF version. Of course we will consider ...
Anna Dionysopoulou
It was a great experience publishing through JCICM. The article has reached out to several institutions. Appreciate your professional work. Hope to work with you again
Anas Wardeh
I think that Heighpubs very good. You are very helpful. Thank you for everything.
Ana Ribeiro
In 2017, I submitted a manuscript to the journal Archives of Biotechnology and Biomedicine belonging to Heighten Science Publications Corporation. Within one week I already received the response from ...
University of Tubingen, Germany
Yvonne Mast
Your service is very good and fast reply, also your service understand our situation and support us to publication our articles.
Ayman M Abu Mustafa
During the process your positive communication, prompt feedback and professional approach is very highly appreciated. We would like to thank you very much for your support.