Sturge-Weber syndrome

This is Republished from another one of my websites. I wanted to say thanks to Johana ( i hope thats the right spelling) for all your help with the Pediatric case the other day. Thanks for letting me know how things turned out.  Her son has Sturge -Weber. I met him the other day at publix he is a cool kid.  

 

 

SATURDAY, MAY 05, 2007

Sturge-Weber syndrome

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What is SWS? Sturge-Weber syndrome (SWS) is the association of a facial port-wine stain with abnormal vessels on the surface of the brain (leptomeningeal angioma), ,–>glaucoma , or both. Some people have an isolated intracranial variant, meaning abnormal brain blood vessels with no skin or eye symptoms. SWS does NOT generally run in families. It can affect one side (in about 85%) or both sides (in about 15%) of the body. The presence of a port-wine stain involving the forehead or eyelids raises the suspicion of SWS. These infants and children must be followed closely for other medical issues, including vision problems, epilepsy, and developmental delays.

The fundamental abnormality in the Sturge-Weber syndrome (SWS) is considered to be the lack of superficial cortical draining veins, which results in numerous collateral pathways of venous flow. Venous abnormalities have been described in detail using angiography but magnetic resonance imaging (MRI) has replaced angiography in the diagnosis of SWS.

Conclusion

Evaluation of venous structures on standard brain MRI sequences demonstrated abnormalities in 70% of children with SWS

(source)

MR perfusion imaging and MR spectroscopic imaging
can be safely used to characterize the early
hemodynamic and metabolic changes in Sturge-Weber
syndrome. A better understanding of the natural
progression of disease may aid in early diagnosis,
perhaps before development of symptoms and direct
appropriate therapeutic intervention.

Here is a case study from the Idian Journal of Radiology and Medicine

Singh S, Thomas S Department of Radiodiagnosis and Imaging, Christian Medical College and Hospital, Vellore-632004, India.

Sturge-Weber Community

In the US: According to Nelson’s Textbook of Pediatrics, the incidence of SWS is estimated at 1 per 50,000. No regional differences have been identified. The inheritance is sporadic. The incidences of the major clinical manifestations of SWS are listed in Table 1.

Table 1. Clinical Manifestations of Sturge-Weber Syndrome
Risk of SWS with facial PWS 8%
SWS without facial nevus 13%
Bilateral cerebral involvement 15%
Seizures 72-93%
Hemiparesis 25-56%
Hemianopia 44%
Headaches 44-62%
Developmental delay and mental retardation 50-75%
Glaucoma 30-71%
Choroidal hemangioma 40%

Neuroimaging studies: Besides the clinical examination, these have been the procedures of choice to establish the diagnosis. Historically these are skull radiograph, angiography, CT scan, MRI, MRI with gadolinium, and functional imaging with SPECT or positron emission tomography (PET).

Summary of Work-up Findings in Sturge-Weber Syndrome

CSF analysis
Elevated protein

Skull x-ray
Tram-track calcifications

Angiography
Lack of superficial cortical veins, Nonfilling dural sinuses,Abnormal tortuous vessels

CT scan
Calcifications, tram-track calcifications Cortical atrophy, Abnormal draining veins,Enlarged choroid plexus ,Blood-brain barrier breakdown (during seizures) ,Contrast enhancement

MRI
Gadolinium enhancement of LA, Enlarged choroid plexus Sinovenous occlusion, Cortical atrophy Accelerated myelination

SPECT
Hyperperfusion, early Hypoperfusion, late

PET
Hypometabolism

EEG
Reduced background activity Polymorphic delta activity Epileptiform features

more

Sturge-Weber Foundation

National Organization of Rare Diseases

POSTED BY CHRIS AT SATURDAY, MAY 05, 2007

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