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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Read this article in English. Case 8 Case 8.
Sturge-Weber syndrome was first described by Sturge infollowed by Weber and Volland in who described the intracranial calcification.
The finding usually becomes evident between 2 and 7 years of age 2. Case 1 Case 1.
Síndrome de Sturge-Weber: revisión | Actas Dermo-Sifiliográficas (English Edition)
Diagnostic methods Diagnosis is suspected upon clinical examination. Approximately a third of patients have choroidal or scleral angiomatous involvement, which may be complicated with retinal detachment, buphthalmos or glaucoma 1.
Radiographic identification of cerebral calcification was first described by Dimitri in Pemphigus Vegetans in the Inguinal Folds. With the progression of the disease, and depending on the severity of seizures, patients may develop hemiparesis, hemiplegia, and variable degrees of intellectual disability.
Prognosis depends on the extent of leptomeningeal involvement and the severity of the glaucoma. To quiz yourself on this article, log in to see multiple choice questions. Skull x-rays were historically useful and capable of identifying the gyriform calcification of the subcortical white matter although they no longer play a significant role in the diagnosis or management of this condition. 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.
The diagnosis is usually obvious on account of a congenital facial cutaneous hemangioma also known as port wine stain or facial naevus flammeus. SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal’s impact.
enfermedad de sturge-weber
The leptomeningeal hemangioma results in a vascular steal affecting the subjacent cortex and white matter producing localised ischemia. Specialised Social Services Eurordis directory. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Frequent ophthalmologic examinations should be carried out in cases with glaucoma. Glaucoma may be present at birth or develop later. It is characterized by a facial Port-wine stain, leptomeningeal angiomatosis, and glaucoma.
Term Bank – enfermedad de sturge-weber – Spanish English Dictionary
Case 11 Case Physiotherapy is required for muscular weakness and functional impairments. Additional information Further information on this disease Classification s 8 Gene s 1 Disability Clinical signs and symptoms Publications in PubMed Other website s Prognosis depends on the extent of leptomeningeal involvement and the severity of the glaucoma.
Synonyms or Alternate Spellings: Focal resection or hemispherectomy enfermedav be investigated when medical management fails to control the seizures. Only comments written in English can be processed.
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Case 10 Case Soft tissue and bony hypertrophy can be associated with a developing PWS that can lead to vision, hearing, swallowing, and speaking problems.
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Laser treatment, usually started in infancy, reduces the progression of the PWS and allows partial, or in rare cases, complete, clearance. Functional cerebral imagining can be useful e. Thank you for updating your details. Epidemiology Clinical presentation Pathology Radiographic features Treatment and enferkedad History and etymology Differential diagnosis Related articles References Images: Sturge-Weber syndrome is a sporadic congenital neurocutaneous disorder caused by a somatic snfermedad mutation in GNAQ ; it affects 1 in every 20, to 50, newborns.
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