Sturge-Weber syndrome

Alison J Sebold BS (

Ms. Sebold of the Sturge-Weber Syndrome Center at the Kennedy Krieger Institute has no relevant financial relationships to disclose.

)
Anne M Comi MD (Dr. Comi, Director of the Sturge-Weber Syndrome Center at the Kennedy Krieger Institute, has no relevant financial relationships to disclose.)
Michael V Johnston MD, editor. (

Dr. Johnston of Johns Hopkins University School of Medicine and Chief Medical Officer at Kennedy Krieger Institute has no relevant financial relationships to disclose.

)
Originally released April 13, 1994; last updated July 25, 2018; expires July 25, 2021

This article includes discussion of Sturge-Weber syndrome, encephalotrigeminal angiomatosis, encephalofacial angiomatosis, and Sturge-Weber-Dimitri syndrome. The foregoing terms may include synonyms, similar disorders, variations in usage, and abbreviations.

Overview

Sturge-Weber syndrome is a neurocutaneous disorder that presents with a facial capillary malformation (port-wine birthmark), abnormal blood vessels on the surface of the brain (leptomeningeal angioma), and glaucoma. The discovery of the underlying somatic mosaic mutation in GNAQ treatment trials, tissue studies, and the utilization of innovative neuroimaging techniques are leading the way to a new understanding of pathogenesis and potential treatment strategies. Sturge-Weber patients frequently develop seizures, focal neurologic impairments, visual problems, and cognitive deficits. Early diagnosis is important in providing optimal care for complications. In this article, the author summarizes research into the pathophysiology of this unique disorder and explains the most current diagnosis and treatment approaches utilized at the Hunter Nelson Sturge-Weber Syndrome Center at the Kennedy Krieger Institute.

Key points

 

• Diagnosis of Sturge-Weber syndrome brain involvement requires an MRI with contrast.

 

• Sturge-Weber syndrome (and isolated port-wine birthmarks) are caused by a somatic mutation in the GNAQ gene.

 

• Prolonged and frequent seizures in infants and young children contribute to neurologic decline.

 

• Low-dose aspirin has been shown to decrease the frequency and severity of seizures and stroke-like episodes in Sturge-Weber syndrome.

Historical note and terminology

Sturge-Weber syndrome documentation began when Schirmer first identified an association between bilateral facial angiomatous nevus and bilateral buphthalmos (eye enlargement) (Schirmer 1860). In 1879 Sturge described a relationship between facial and ocular angiomatous lesions and cerebral pathology that led to focal seizures, as well as hemiparesis contralateral to the facial angioma (Sturge 1879). Kalischer provided neuropathological confirmation of the cerebral lesions (Kalischer 1897). In 1922 Weber noted intracranial calcifications (Weber 1922), which were also reported by Dimitri in 1923 (Dimitri 1923).

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