ENFERMEDAD STURGE WEBER PDF

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Visual field defects and glaucoma Growth hormone deficiency. What are the complications of Sturge—Weber syndrome? The complications of Sturge—Weber syndrome depend on the extent of vascular malformations and other clinical features. They are extremely variable. How is Sturge—Weber syndrome diagnosed? The diagnosis of Sturge—Weber syndrome is based on finding port-wine stains and leptomeningeal capillary-venous malformations.

A diagnosis based on leptomeningeal lesions alone depends on the development of symptoms. If there are neurological symptoms or findings, magnetic resonance imaging MRI of the brain is undertaken with gadolinium contrast to detect leptomeningeal capillary-venous malformations.

What is the differential diagnosis for Sturge—Weber syndrome? The characteristics of other vascular malformation syndromes are described below. Parkes—Weber syndrome presents with a large capillary malformation on an extremity and hypertrophy of the affected limb. There are multiple, fast-flowing arteriovenous shunts. Servelle—Martorell syndrome, a rare congenital angiodysplastic disease, is associated with progressive limb hypotrophy.

Proteus syndrome presents with asymmetrical and disproportionate overgrowth of body parts. The syndrome results from a somatic activating mutation in the AKT1 oncogene. What is the treatment for Sturge—Weber syndrome? There is no specific treatment for Sturge—Weber syndrome. It depends on managing the cutaneous, neurological and ocular symptoms, with limited success. Treatment of seizures in patients with Sturge—Weber syndrome with antiepileptics is not always successful [8].

No single treatment appears to be superior to others. Port-wine stains can be treated with pulsed-dye laser. Lesions on the face and neck yield poorer results than lesions on other parts of the body [9]. Glaucoma in patients with Sturge—Weber syndrome is treated surgically and medically [10]. Infants diagnosed with Sturge—Weber syndrome should be treated with low-dose aspirin [11,12].

The antithrombotic therapy may prevent the progression of the disease, which can impair blood flow to the brain resulting in neuronal damage. What is the outcome for Sturge—Weber syndrome? The prognosis of Sturge—Weber syndrome depends on the extent of involvement of the brain and the skin.

Extensive port-wine stains are associated with a higher risk of epilepsy and glaucoma, while bilateral leptomeningeal vascular malformations are associated with learning and intellectual disability [13].

The onset of seizures before the age of one has a significant effect on cognitive and motor function in children with Sturge—Weber syndrome [14].

It is estimated that approximately one in two adults with Sturge—Weber syndrome have neurological defects, even in those who were initially asymptomatic.

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Het Sturge Weber syndroom

Las convulsiones generalmente afectan el lado del cuerpo opuesto al de la mancha de vino oporto y son de intensidad variable. Se aprecia crecimiento exagerado del proceso alveolar superior izquierdo. El plano oclusal superior inclinado descendido del lado izquierdo. El tercio facial inferior aumentado con respecto al tercio medio facial. Se aprecia un mayor crecimiento del seno maxilar izquierdo y descenso del proceso alveolar izquierdo.

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Sturge-Weber Syndrome: A Review.

Description Sturge-Weber syndrome is a condition that affects the development of certain blood vessels, causing abnormalities in the brain, skin, and eyes from birth. Sturge-Weber syndrome has three major features: a red or pink birthmark called a port-wine birthmark, a brain abnormality called a leptomeningeal angioma, and increased pressure in the eye glaucoma. These features can vary in severity and not all individuals with Sturge-Weber syndrome have all three features. Most people with Sturge-Weber syndrome are born with a port-wine birthmark. This type of birthmark is caused by enlargement dilatation of small blood vessels capillaries near the surface of the skin. Port-wine birthmarks are typically initially flat and can vary in color from pale pink to deep purple.

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Sturge–Weber syndrome

Abstract This is a case of a year-old male who was born with a port-wine stain on right side of his face, developed seizures at the age of 2, was not able to complete formal education in a school. MRI revealed intracranial calcification and left-sided brain atrophy. He had diagnosis of Sturge—Weber syndrome. Since the time of adolescence, he developed psychiatric problems and hence was treated with psychotropic medications.

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