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Sturge-Weber syndrome in Infant/Neonate
See also in: External and Internal Eye
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Sturge-Weber syndrome in Infant/Neonate

See also in: External and Internal Eye
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Contributors: Craig N. Burkhart MD, Dean Morrell MD, Lowell A. Goldsmith MD, MPH
Other Resources UpToDate PubMed

Synopsis

Sturge-Weber syndrome (SWS) is a noninherited congenital condition characterized by an extensive port-wine stain involving the V1 area (most frequently), eye abnormalities, and leptomeningeal and other brain abnormalities. In SWS, all 3 organ systems can be involved or a combination of systems. Glaucoma, often in the neonatal period, is a frequent association in up to 30% of patients with the syndrome. A number of neurological problems are associated and include epilepsy (which often has its onset in infancy or early childhood and is seen in a majority of patients with SWS), intellectual disability, hemiplegia, hemiatrophy, microencephaly, cortical blindness, increased intracranial pressure, and intracranial hemorrhage. Approximately 90% of patients have an activating somatic mutation in GNAQ, which encodes a G-protein subunit, in the affected tissues.

For more information, see OMIM.

Codes

ICD10CM:
Q85.8 – Other phakomatoses, not elsewhere classified

SNOMEDCT:
19886006 – Sturge-Weber syndrome

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Last Updated: 10/30/2018
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Sturge-Weber syndrome in Infant/Neonate
See also in: External and Internal Eye
Print 12 Images
View all Images (12)
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Sturge-Weber syndrome : Headache, Hemiplegia , Blanching patch, Developmental delay
Clinical image of Sturge-Weber syndrome
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