Sturge weber syndrome

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Sturge webber syndromeBy

Thenamudhan Ashokkumar

+ 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.

+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 )

+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

+ 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%

+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.

+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.

+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.

+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

+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

+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)

+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.

+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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