El síndrome de Sturge-Weber es un trastorno vascular congénito . el 77% de los pacientes, siendo la enfermedad más frecuente el glaucoma (46%), seguido . ORPHA Synonym(s). Encephalofacial angiomatosis; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Dimitri syndrome; Sturge-Weber-Krabbe. Meanings of “enfermedad de sturge-weber” in English Spanish Dictionary: 1 result(s) Meanings of “enfermedad de sturge-weber” with other terms in English.

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enfermedad de sturge-weber

Epidemiology Clinical presentation Pathology Radiographic features Treatment and prognosis History and etymology Differential diagnosis Related articles References Images: Case 11 Case In rare cases, patients may not present with PWS. Synonyms or Alternate Spellings: Functional cerebral imagining can be useful e.

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With the progression of the disease, and depending on the severity of seizures, patients may develop hemiparesis, hemiplegia, and variable degrees of intellectual disability. Approximately a third of patients have choroidal or scleral angiomatous involvement, which may be complicated with retinal detachment, buphthalmos or glaucoma 1.

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Orphanet: Síndrome de Sturge Weber

Sturge-Weber syndrome is a sporadic congenital neurocutaneous disorder caused by a somatic activating mutation in GNAQ ; it affects 1 in every 20, to 50, newborns. Focal resection or hemispherectomy should be investigated when medical management fails to control the seizures.

Additional information Further information on this disease Classification s 8 Gene s 1 Disability Clinical signs and symptoms Publications in PubMed Other website s Diagnosis sturhe suspected upon clinical examination.

Neuroimaging studies show leptomeningeal angiomatosis, supporting diagnosis.

You can change the settings or obtain more information by clicking here. Management and treatment Laser treatment, usually started in infancy, reduces the progression of the PWS and allows partial, or in rare cases, complete, clearance. Case 4 Case 4. The facial capillary malformation classically referred to as angioma is a port-wine stain PWS that is generally present at birth and located on the forehead or upper eyelid on one or both sides of the face.

Read it at Google Books – Find it at Amazon. Unlike most phakomatoses, Sturge-Weber syndrome is sporadic with no definite identifiable hereditary component 5, Edit article Share article View revision history.


Ophthalmological examination is also essential to identify and treat ocular involvement 4. Treatment revolves primarily around seizure control, with surgical resection only indicated rarely in refractory cases.

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Case 8 Case 8. In the year has been indexed in the Medlinedatabase, and has become a vehicle for expressing the most current Spanish medicine and modern. Articles Cases Courses Quiz. Sometimes, the PWS may also cover the maxillary and mandibular areas of the face and in some cases may extend to the trunk and limbs. The differential is a combination of that for multiple intracranial calcificationscerebral hemiatrophy and leptomeningeal enhancementand therefore includes:.

Health care resources for this eturge Expert centres Diagnostic tests 10 Patient organisations 65 Orphan drug s 0. Specialised Social Services Eurordis directory.

Diagnostic methods Diagnosis is suspected upon clinical examination.