just small one

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Sturge webber syndrome
By
Thenamudhan Ashokkumar

2. +  Sturge–Weber syndrome, sometimes referred to
as encephalotrigeminal angiomatosis, is a
rare congenital neurological and skin disorder, non-
familial disorder of unknown incidence and cause.
 It is characterized by a congenital facial birthmark and
neurological abnormalities.
 Other symptoms associated with Sturge-Weber can
include eye and internal organ irregularities.
 Each case of Sturge-Weber Syndrome is unique and
exhibits the characterizing findings to varying degrees.
 Sturge-Weber is an embryonal developmental anomaly
resulting from errors
in mesodermal and ectodermal development.

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Signs and symptoms
 Developmental delay/mental retardation
 Learning problems
 Attention deficit-hyperactivity disorder
 Hemangiomalike, superficial changes (which on histology
demonstrate only venous dilation) in the eyelid
 Buphthalmos
 Glaucoma
 The cutaneous venous facial lesion is usually the first
component of the syndrome to be observed, because it is
visible at birth. It may be very pale at first, but it usually
becomes darker with age (port wine stain )

4. + It is named for William Allen Sturge and Frederick Parkes Weber
Physical signs of SWS are as follows:
 PWS
 Macrocephaly
 Ocular manifestations
 Soft-tissue hypertrophy
 Hemiparesis
 Visual loss
 Hemianopsia

5. + Epidemiology
 1 person per 50,000.
 The inheritance is sporadic, and no regional differences in
incidence have been identified
Clinical Manifestation Incidence Rate
SWS without facial nevus 13%
Bilateral cerebral
involvement
15%
Seizures 71-93%
Hemiparesis 25-56%
Hemianopia 44%
Developmental delay and
mental retardation
50-75%
Glaucoma 30-71%

6. + In 1992, E. Steve Roach, MD classified the SWS spectrum, delineating
for thefirst time the varying degrees of involvement previously noted in
this condition
 Type 1
 he most common, this type involves both
facial and leptomenigeal (brain) angiomas
(vascular malformations) and may involve
glaucoma
 The white portion of the eye may appear
"bloodshot" as a result of the over-
proliferation of blood vessels on the eye
 Mental and physical development can be
impaired to varying degrees, depending on
the amount of vascular birthmark throughout
the brain and eye.

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Type 2
 This type involves a facial angioma and
the possibility of glaucoma, but no
evidence of intracranial disease
 There is no specific time-frame for the
exhibition of symptoms beyond the initial
recognition of the facial PWS.
 Throughout the life of the individual,
interrelated symptoms may manifest in
glaucoma, cerebral blood flow
abnormalities, headaches, and various
other complications.

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Type 3
 This type of SWS is commonly noted
to have a leptomeningeal angioma,
with no facial involvement and usually
no development of glaucoma.
 Commonly referred to as forme
fruste, this type is identified through
brain scans. It can also be confused
with other diagnoses prior to a brain
scan with contrasting agent.
 While social stigma is lessened by
the absence of PWB, the unknown
natural course of the syndrome is still
frustrating for parents and
professionals treating the condition.

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Procedure findings :
 Procedure Findings
 CSF analysis Elevated protein
 Skull radiography Tram-track calcifications
 Angiography Lack of superficial cortical veins
Non-filling dural sinuses
Abnormal, tortuous vessels

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

11. + MRI
 Gadolinium enhancement of leptomeningeal angiomas (LAs)
 Enlarged choroid plexus
 novenous occlusion
 Cortical atrophy
 Accelerated myelination
SPECT scanning
 Hyperperfusion, early
 Hypoperfusion, late
Electroencephalography (EEG)
 Reduced background activity
 Polymorphic delta activity
 Epileptiform features

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Treatment
 Medical care in SWS includes anticonvulsants for seizure
control, symptomatic and prophylactic therapy for headache,
glaucoma treatment to reduce IOP, and laser therapy for the
PWS.
Glaucoma medications
 Beta-antagonist eye drops - Decrease the production of
aqueous fluid
 Carbonic anhydrase inhibitors - Also decrease production of
aqueous fluid
 Adrenergic eye drops and miotic eye drops - Promote drainage
of aqueous fluid

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Dye laser photocoagulation
 Treatment of the cutaneous PWS with dye laser
photocoagulation has been helpful in reducing the cosmetic
blemish from the cutaneous vascular dilatation.
Surgical procedures for seizures that are refractive to medical
treatment include the following :
 Focal cortical resection
 Hemispherectomy
 Corpus callosotomy
 Vagal nerve stimulation (VNS)

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Prognosis
 Although it is possible for the birthmark and atrophy in the
cerebral cortex to be present without symptoms, most infants
will develop convulsive seizures during their first year of life.
 There is a greater likelihood of intellectual impairment when
seizures start before the age of 2 and are resistant to
treatment.

16. +
Foundation
 The Sturge-Weber Foundation's (The SWF) international
mission is to improve the quality of life and care for people with
Sturge–Weber syndrome and associated Port Wine Birthmark
conditions
 Hemispherectomy Foundation was formed in 2008 to assist
families with children who have Sturge-Weber Syndrome and
other conditions that require hemispherectomy.
 The Brain Recovery Project was formed in 2011 to fund
research and establish rehabilitation protocols to help children
who have had hemispherectomy surgery reach their full
potential.

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Reference
 http://emedicine.medscape.com/article/1177523-overview
 http://www.sturge-weber.org/medical-matters/sturge-weber-
syndrome.html
 http://www.nlm.nih.gov/medlineplus/ency/article/001426.htm

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