Updates and future horizons on the understanding, diagnosis, and treatment of Sturge–Weber syndrome brain involvement

Abstract

AIM To review recent developments in the understanding, diagnosis, and treatment of Sturge–Weber syndrome (SWS). METHOD Members of the Brain Vascular Malformation Consortium Sturge–Weber National Workgroup contributed their expertise, to review the literature, and present promising directions for research. RESULTS The increasing number of reports dealing with SWS over the last decade reflects progress in the diagnosis and understanding of the neurological involvement. The proliferation of centers and advocacy groups to care for patients with SWS and to stimulate research has aided the development of new insights into the clinical manifestations and the pathophysiology of neurological progression, and the development of novel hypotheses to direct future research. Many key questions remain, but the tools and networks to answer them are being developed. INTERPRETATION This review summarizes important new knowledge and presents new research directions that are likely to provide further insights, earlier diagnosis, improved treatments, and possibly, prevention of this syndrome.

Prąd uszkodzenia pęczka Hisa i czynny rytm węzłowy — rozważania kliniczne i techniczne

“…And it should not be an exception as in many clinical situations the direct irritation of the excitable tissue can result in electrical response. It is also well known in particular in neurological disorders where the possibility of focal epilepsy results from the pressure of the tumor or other solid structures [5]. Another example …”

Deep cerebral vein expansion with metabolic and neurocognitive recovery in Sturge–Weber syndrome

“…2A). SWI (double gradient echo sequence9, voxel size: 0.5 × 0.5 × 2.0 mm3, slice number: 64, acquisition time: 5.0 min) demonstrated several enlarged deep medullary and subependymal veins in the right frontal, parietal, and temporo‐occipital regions (Fig. 2C).…”

“…Recently, a somatic mutation of the GNAQ gene has been described as the likely cause of the disease 2. The diagnosis is usually suspected at birth based on the facial port‐wine birthmark and then established by neuroimaging; typical SWS brain involvement on MRI includes leptomeningeal contrast enhancement, enlarged deep veins and choroid plexus, focal atrophy, and calcifications 3. The clinical course and outcome of SWS is highly variable, ranging from no or minimal neurological signs to severe impairment with uncontrolled seizures, hemiparesis, visual field cut, and learning disability 3.…”

“…The diagnosis is usually suspected at birth based on the facial port‐wine birthmark and then established by neuroimaging; typical SWS brain involvement on MRI includes leptomeningeal contrast enhancement, enlarged deep veins and choroid plexus, focal atrophy, and calcifications 3. The clinical course and outcome of SWS is highly variable, ranging from no or minimal neurological signs to severe impairment with uncontrolled seizures, hemiparesis, visual field cut, and learning disability 3. Cross‐sectional and longitudinal neuroimaging studies showed that some children with SWS show good neurocognitive outcome despite extensive unilateral brain involvement, presumably due to early, effective functional reorganization in the contralateral (unaffected) hemisphere 4, 5, 6.…”

The Skin and Neurologic Disease

“…If this cutaneous lesion overlies the first division, there is a 75 percent chance that there will be a corresponding leptomeningeal venous malformation overlying focal deep cortical calcifications This is often visible on skull radiographs as a "tram sign," the two tracks of which follow the contours of the calcified gyri. 89 Sturge-Weber syndrome is believed to result from somatic mosaicism for a mutation in an as-yet unidentified gene, vertical transmission from parent to child never having been observed. The most common neurologic manifestation is epilepsy, typically partial complex seizures.…”