Update on Sturge–Weber Syndrome: Diagnosis, Treatment, Quantitative Measures, and Controversies
Sturge-Weber syndrome (SWS) is defined by the association of a facial capillary malformation (port-wine stain), with a vascular malformation of the eye, and/or vascular malformation of the brain (leptomeningeal angioma). Variants exist where only one of these three structures is involved with the vascular malformation. SWS occurs sporadically and is congenital. Port-wine stains occur in 3 per 1000 live births. No good population-based data exist for how many people have Sturge-Weber syndrome, however, estimates range between one in 20-50,000 live births. This review summarizes literature regarding the main features and pathophysiology of Sturge-Weber syndrome, however the cause of this syndrome remains obscure. Recent advances in neuroimaging have provided important insights into the progression of neurologic injury that occurs as a result of impaired blood flow. Important limitations exist, however, as currently the early diagnosis and exclusion of Sturge-Weber syndrome is impaired by the poor sensitivity of imaging in the newborn period and early infancy. Several important controversies complicate our ability to care for these patients and include the questions of ideal timing of surgery, whether seizures themselves contribute to the neurologic injury, and what the role of low-dose aspirin should be. This review will summarize several recent advances in our understanding of the mechanisms of brain injury in SWS, new measures for quantifying the neurologic involvement and new approaches and controversies in the management of the neurologic complications.
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- "Port-wine birthmarks involving the airway should raise concerns about possible obstructive sleep apnea , especially if tissue hypertrophy is also present. Obstructive sleep apnea with desaturations could worsen complaints of headaches, a common issue in children and adults with Sturge-Weber syndrome , and could contribute to neurologic deterioration over time  in the setting of Sturge-Weber syndrome, where perfusion imaging and single-photon emission computed tomography studies demonstrated impaired cerebral perfusion to affected brain regions . Therefore, parents or sleep partners should be asked about snoring or obstruction during sleep. "
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ABSTRACT: The pathophysiology of Sturge-Weber syndrome is poorly understood, and ear, nose, and throat involvement is possible. These issues can result in frequent illnesses or airway obstruction, affecting patients' neurologic status. Patients with definite brain involvement who reported potential ear, nose, and throat issues on intake questionnaires underwent retrospective reviews of their medical records. We examined the relationships between these issues, secondary surgical interventions, and patients' neurologic status. The most common complaints involved the sinuses and frequent ear infections. Six patients underwent placement of ear tubes, leading to improvements in migraines and stroke-like episodes in one patient, and improved seizure control in four others. Obstructive sleep apnea was confirmed in three patients who underwent sleep studies. Tonsil or adenoid removal occurred in another three patients. Surgery resulted in marked improvements regarding excessive drooling, daytime sleepiness, and breathing problems. These findings suggest that ear, nose, and throat problems occur frequently in patients with Sturge-Weber Syndrome, and when repeated ear infections are associated with uncontrolled seizures, early placement of ear tubes may be beneficial. Furthermore, patients with facial tissue hypertrophy may be at risk for obstructive sleep apnea, and should be appropriately evaluated.
Pediatric Neurology 10/2010; 43(4):241-4. DOI:10.1016/j.pediatrneurol.2010.05.010 · 1.70 Impact Factor
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ABSTRACT: A frameless stereotaxic operating microscope for neurosurgery is
discussed. The microscope projects computed tomography (CT) information
into the microscope, superposing a tumor outline or guidance to
predetermined targets in the surgical field in the correct scale,
position, and orientation. The transposition of data from CT to OR
(operating-room) space is accomplished with a set of fiducial points
which are localized in both CT and OR space, eliminating the need for
conventional mechanical stereotaxic frame attached to the head of the
patient. Once this transformation matrix has been determined, the
operating microscope's position is monitored and information derived
from the CT scan is projected into the operating microscope. A
nonimaging ultrasonic rangefinder, consisting of microphones and sound
emitters, enables the precise location of the sound emitters in OR space
to be determined. Under computer control, one sound emitter is fired,
and the distance from it to each of the microphones is determined. The
operating microscope has three sound emitters attached to it, so its
position and orientation can be uniquely determined. Sound emitters are
placed on the fiducial points on the patient's scalp, and the CT-OR
transformation is determined. In this way, an open surgical field is
maintained, yet stereotaxic information and guidance is available
Bioengineering Conference, 1988., Proceedings of the 1988 Fourteenth Annual Northeast; 04/1988
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ABSTRACT: To study the differential hemodynamic effects of cardiac cycle-specific ITP (intrathoracic pressure) pulses delivered by high-frequency jet ventilation (f approximately=2.5 Hz) at constant mean ITP, the authors varied their timing within single cardiac cycles during acute and chronic ventricular failure, preload-dependent left ventricular (LV) filling, and acute endotoxemia. Such pulses affect ventricular loading and mediate a spectrum of cardiac responses, depending on timing, contractility, intravascular volume, and vasomotor tone. With LV failure, ventricular assist is maximal during systolic pulses which reduce LV afterload and transmural aortic input impedance. When cardiac performance is preload-dependent, diastolic pulses maintain cardiac output at apneic levels when timed near the completion of ventricular filling.< >
Engineering in Medicine and Biology Society, 1988. Proceedings of the Annual International Conference of the IEEE; 12/1988
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