The role of episcleral venous pressure in glaucoma associated with Sturge-Weber syndrome

Author(s):  
Tiffany Shiau ◽  
Narendra Armogan ◽  
David B. Yan ◽  
Hugh G. Thomson ◽  
Alex V. Levin
2014 ◽  
Vol 9 (1) ◽  
pp. 39 ◽  
Author(s):  
Jyoti Sanghvi ◽  
Sudhir Mehta ◽  
Swati Mulye

2015 ◽  
Vol 2015 ◽  
pp. 1-11 ◽  
Author(s):  
Solmaz Abdolrahimzadeh ◽  
Vittorio Scavella ◽  
Lorenzo Felli ◽  
Filippo Cruciani ◽  
Maria Teresa Contestabile ◽  
...  

The phakomatoses have been traditionally defined as a group of hereditary diseases with variable expressivity characterized by multisystem tumors with possible malignant transformation. The Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and the phakomatosis pigmentovascularis have the facial port-wine stain in common. Numerous pathophysiogenetic mechanisms have been suggested such as venous dysplasia of the emissary veins in the intracranial circulation, neural crest alterations leading to alterations of autonomic perivascular nerves, mutation of the GNAO gene in the Sturge-Weber syndrome, PIK3CA mutation in malformative/overgrowth syndromes such as the Klippel-Trenaunay syndrome, and the twin-spotting phenomenon in phakomatosis pigmentovascularis. Other features linked to the port-wine stain and typical to all of the three conditions are glaucoma and choroidal alterations. Glaucoma can be due to malformations of the anterior chamber or high episcleral venous pressure and in phakomatosis pigmentovascularis it can also be associated with angle hyperpigmentation. The choroid can be thickened in all diseases. Furthermore, choroidal melanocytosis in the phakomatosis pigmentovascularis can lead to malignant transformation. Although the multiple pathophysiological mechanisms still require clarification, similarities in ophthalmic manifestations make it reasonable to classify these diseases in an independent group.


2018 ◽  
Vol 5 (2) ◽  
pp. 3507-3512
Author(s):  
Dr. Shashibala J Yadav ◽  
Dr. Anu Sharma

Background: Seizures is the most common pediatric neurological disorder. 5-10% percent of children suffer at least one episode of seizure in the first 16 years of life. The incidence is highest in children less than 3 years of age. Epidemiological studies reveal that approximately 1, 50, 000 children will sustain a first-time, unprovoked seizure each year and of these 30,000 will develop epilepsy. Many of the adolescents and adults having epilepsy had their first episode of seizures in childhood. The management of seizures or later epilepsy is more complex in developing countries like India because of ignorance, poverty, stigmatization and lack of resources and trained manpower. The role of neuroimaging in unprovoked seizures has always been a topic of great interest and research. The role of neuroimaging in children with new onset unprovoked seizures is also not well defined and insufficient evidence is available to make a standard recommendation or guidelines for the use of routine neuroimaging in children with first unprovoked seizure. We conducted this study to find out neuroimaging abnormalities in children with first onset unprovoked seizures and to know whether finding of such neuroimaging abnormalities affect the management of these patients. Aims and Objectives: To find out types of neuroimaging abnormalities in children with unprovoked seizures and to know whether finding of such neuroimaging abnormalities affect the management of these patients. Materials and methods: This was a prospective cohort study comprising of children from 6 months to 12 years who have been referred to radiology department for either CT or MRI brain following first episode of unprovoked or complex febrile seizures. The demographics, history and clinical details were noted from case papers. Neuroimaging abnormalities found in these patients were noted and studied. The data was tabulated and analyzed using SPSS 16.0 version software. Results: Total 30 children with unprovoked or complex febrile seizures who were referred to us for neuroimaging were enrolled in this study. 10 (33.33%) patients between 6m to 6 years and remaining 20 (66.66%) were more than 6 years. Most common type of seizures were found to be generalised seizures (60%). CT abnormalities were found in 9 patients (30%). MRI was done in 12 patients abnormalities were seen in 10 patients (33.33%). The most common CT and MRI abnormality found in these patients was volumetric reduction of cerebral hemisphere consistent with cerebral atrophy and Volume loss respectively. The other abnormalities found on neuroimaging included focal hypodense lesions (6.66%), white matter hypo-densities (3.33%), tram-track calcification suggestive of sturge weber syndrome (3.33%) and hemorrhage (3.33 %). MRI abnormalities seen in the patients included atrophic changes (3/12), infarcts (2/12), white matter lesions (2/12), Sturge Weber syndrome (1/12), hemorrhage (1/12) and acute disseminated encephalomyelitis (1/12). Conclusion: Children presenting with first onset unprovoked or complex febrile seizures should undergo neuroimaging, preferably MRI, as part of basic workup. Many of thes children are likely to be having neuroimaging abnormalities which will require specific treatment.


EJVES Extra ◽  
2012 ◽  
Vol 23 (2) ◽  
pp. e16-e17
Author(s):  
A. Ismail ◽  
S.K. Idris ◽  
A.M. Tabari ◽  
H. Ismail ◽  
S. Ali ◽  
...  

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