Sturge-Weber syndrome: an update on the relevant issues for neurosurgeons

Abstract

Purpose Sturge-Weber syndrome (SWS) is a neurocutaneous facomatosis characterized by facial and leptomeningeal angioma, glaucoma, seizures, and neurological disability. Therefore, a challenging multidisciplinary interaction is required for its management. The goal of this paper is to review the main aspects of SWS and to present an illustrative pediatric series. Methods The pertinent literature has been analyzed, focused mainly on etiopathogenesis, pathology, clinical features, diagnostic tools, management, and outcome of the disease. Moreover, a series of 11 children operated on for refractory epilepsy between 2005 and 2015 (minimum follow-up 5 years, mean follow-up 9.6 years) is reported. The series consists of six boys and five girls with 6.5-month and 16.2-month mean age at seizure onset and at surgery, respectively. Seizures affected all children, followed by hemiparesis and psychomotor delay (81%), glaucoma (54%), and other neurological deficits (45%). Results All children underwent hemispherectomy (anatomical in three cases, functional in two cases, hemispherotomy in six cases); one patient needed a redo hemispherotomy. Mortality was nil; disseminated intravascular coagulation and interstitial pneumonia occurred in one patient each; three children had subdural fluid collection. Eight patients (72%) are in the ILAE Class 1 (completely seizure and aura free), two in Class 2 (only auras, no seizure), and one in Class 3 (1-3 seizure days per year). AEDs discontinuation was possible in 73% of cases. The most important news from the literature concerned the pathogenesis (role of the mutation of the GNAQ gene in the abnormal SWS vasculogenesis), the clinical findings (the features and pathogenesis of the stroke-like episodes are being understood), the diagnostic tools (quantitative MRI and EEG), and both the medical (migraine, seizures) and surgical management (epilepsy). The epileptic outcome of SWS patients is very good (80% are seizure-free), if compared with other hemispheric syndromes. The quality of life is affected by the neurological and cognitive deficits. Conclusions SWS still is an etiological and clinical challenge. However, the improvements over the time are consistent. In particular, the neurosurgical treatment of refractory epilepsy provides very good results as long as the indication to treatment is correct.

Migraine as a Common Extra-Intestinal Presentation of Celiac Disease

“…Indeed, the pathological specimens exhibit various cortical vascular abnormalities, such as venous hemangiomas in deep cortical layers, subcortical calcification of the vessel walls, and large jagged microcalcifications, among others [30]. Such abnormalities are similar to but not identical with those observed in Sturge-Weber syndrome, another condition with the possible coexistence of migraine and epilepsy [31].…”

Focal lesionectomy as surgical treatment of epilepsy in patients with Sturge-Weber syndrome: a case-based systematic review and meta-analysis

“…31,34 In cases of drug-resistant epilepsy, surgery should be considered, and early surgery should be pursued in order to reduce seizureinduced neuronal damage leading to cognitive decline and increase the chances of good postoperative neurological outcome. 16,29,[35][36][37] The decision for surgery is mostly based on the discussion and recommendation of a multidisciplinary team including pediatricians, pediatric neurosurgeons, pediatric neuroradiologists, and pediatric neurologists. 4 EEG findings usually correlate with the MRI findings, although, at times, radiologically noninvolved areas might show pathological changes on EEG as well.…”

“…4 The two main surgical approaches in SWS are lesionectomy and hemispherectomy. 4,36,37 To date, no consensus exists regarding the type of epilepsy surgery in SWS, and the chosen surgical approach is often dependent on the standard of the treating department and their experience. Generally, hemispherectomy is chosen in patients with a widespread or hemispheric defect, while focal lesionectomy can be selected if a clear focal seizure focus is seen, ideally correlating with the radiological location of the lesion as indicated by Wang et al 4 and Bourgeois et al 6 As shown in our meta-analysis, hemispherectomy was associated with a 100% rate of postoperative hemiparesis, and therefore it might be preferable at an early age since brain plasticity seems to be better in younger children, leading to potentially better outcomes in motor function.…”

An interesting case of nevus flammeus with loss of vision and hemiparesis

“…[ 1 ] Sturge–Weber syndrome (SWS) is a sporadic syndrome, which is characterized by a triad of port-wine stain over the trigeminal nerve dermatome, choroidal vascular malformation of the eye and leptomeningeal angiomatosis. [ 2 ] This case emphasizes the importance of neurological and ophthalmic complications of SWS, which should be kept in mind by primary-care physicians when approaching a patient with nevus flammeus. So earlier evaluation of patient will prevent irreversible complications such as hemiparesis and blindness.…”