A Multidisciplinary Consensus for Clinical Care and Research Needs for Sturge-Weber Syndrome

Torre, Alejandro J. De la; Luat, Aimee F.; Juhász, Csaba; Ho, Mai‐Lan; Argersinger, Davis P.; Cavuoto, Kara M.; Enriquez-Algeciras, Mabel; Tikkanen, Stephanie A.; North, Paula E.; Burkhart, Craig N.; Chugani, Harry T.; Ball, Karen L.; Pinto, Anna; Loeb, Jeffrey A.

doi:10.1016/j.pediatrneurol.2018.04.005

Cited by 57 publications

(89 citation statements)

References 79 publications

(87 reference statements)

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“…Repeat gadoliniumcontrast MRI and CT imaging were not generally recommended because of concerns about gadolinium tissue deposition (MRI) and limited sensitivity and radiation (CT). 6,19,20 Our findings support these recommendations. However, this conclusion should be complemented with a thorough history and detailed clinical examination.…”

Section: Discussionsupporting

confidence: 86%

“…In April 2018, a multidisciplinary consensus paper on clinical care and research needs recommended no routine follow-up imaging for patients with stable clinical symptoms. 6 The guidelines noted that repeat noncontrast MRI "may be indicated in select patients . .…”

Section: Discussionmentioning

confidence: 99%

“…Proposed etiologies include ischemia due to leptomeningeal capillary malformations and recurrent microthrombosis. 6 Migraine headaches are more common in Sturge-Weber syndrome patients than in the general population, occurring in 28%, and 58% of these have neurologic deficits during the migraine attack. 7 Treatment options for Sturge-Weber syndrome include the use of preventative low-dose aspirin, which is becoming more prevalent but remains controversial, with studies showing both improvement and worsening of symptoms.…”

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confidence: 99%

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Yield of Emergent Neuroimaging in Patients With Sturge-Weber Syndrome Presenting With Acute Neurologic Symptoms

et al. 2018

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Background/Aims: Seizures, strokelike episodes, and headaches are common complications in patients with Sturge-Weber syndrome. Based on our experience, we hypothesized that patients with Sturge-Weber syndrome have frequent urgent neuroimaging studies when presenting acutely to the emergency department. In this study, we aimed to determine the incidence of acute imaging studies in this patient population and to evaluate the prevalence of findings such as acute intracranial hemorrhagic or ischemic strokes. Methods: To determine the frequency and yield of brain imaging, we conducted a retrospective chart analysis in patients with Sturge-Weber syndrome who presented to Boston Children's Hospital with acute neurologic symptoms between 1996 and 2016. Results: We reviewed 136 encounters of patients with Sturge-Weber syndrome. In 73 of 136 encounters (53.7%), patients underwent a total of 89 imaging studies, consisting of 47 head computed tomographies (CTs) and 42 brain magnetic resonance images (MRIs). Twenty-two percent of patients imaged underwent both CT and MRI scanning of the brain. Patients with strokelike episodes or headaches were more likely to be imaged compared to patients presenting with seizures (89.7% and 100% vs 34.4%, respectively). None of the neuroimaging studies showed acute hemorrhagic or ischemic strokes. Conclusions: Acute neurologic manifestations of Sturge-Weber syndrome frequently lead to urgent neuroimaging. In our cohort, there was no imaging evidence of acute hemorrhagic or ischemic strokes. In addition, emergent imaging in patients presenting with breakthrough seizures did not result in meaningful changes in management.

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Section: Discussionsupporting

confidence: 86%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

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Yield of Emergent Neuroimaging in Patients With Sturge-Weber Syndrome Presenting With Acute Neurologic Symptoms

et al. 2018

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“…Seizures are common in patients with fronto‐orbital involvement, usually starting in the first 2 years of life and even earlier in those with bilateral or extensive involvement. Early seizure onset, frequent seizures, and bilateral brain involvement have been associated with poor cognitive outcomes . No consensus exists on which therapeutic options might provide the best neurologic outcome.…”

Section: Introductionmentioning

confidence: 99%

Preventive treatment with oral sirolimus and aspirin in a newborn with severe Sturge‐Weber syndrome

Junco

Sánchez‐Carpintero

López‐Gutiérrez

2019

Pediatric Dermatology

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Sturge-Weber syndrome (SWS) is characterized by facial capillary malformation, leptomeningeal capillary malformations, and choroidal and episcleral vascular malformations. These malformations produce neurologic and ophthalmological symptoms including seizures and glaucoma. A premature male newborn without prenatal diagnosis presented with severe bilateral SWS and was started on systemic sirolimus and aspirin. The patient has remained seizure-free for 23 months and demonstrated an excellent response to pulsed dye laser treatment. K E Y W O R D S laser, neonatal, therapy-systemic, vascular malformation F I G U R E 3 Patient at 4, 15, and 18 mo of age after sirolimus treatment and multiple PDL sessions | 527 Pediatric Dermatology TRIANA JUNCO eT Al.

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“…However, the importance of assessing quality of life changes, both in terms of the impact of the disease process itself and in response to treatment, is increasingly being recognized; a 2018 consensus article identified the need for measures of quality of life in the research and clinical care of patients with SWS. 2 One previously published prospective drug trial in SWS assessed global "quality of life" using a Likert scale; however, a more detailed assessment of the impact of SWS on quality of life would be useful.…”

Section: Introductionmentioning

confidence: 99%

Quality of Life in Children With Sturge-Weber Syndrome

Harmon

Day

Hammill

et al. 2019

Pediatric Neurology

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Aim: We assessed the utilization of the National Institutes of Health Quality of Life in Neurological Disorders (Neuro-QoL) in pediatric patients with Sturge-Weber syndrome, a rare neurovascular disorder which frequently results in seizures, brain atrophy, calcification, and a range of neurological impairments. Methods: Subjects were seen clinically and consented for research. All 22 patients filled out the Pediatric Neuro-QoL. The Neuro-QoL subscores were converted to T-scores to compare with the referenced control population. Twenty-one participants also filled out the Brain Vascular Malformation Consortium Database Questionnaire containing data pertaining to Sturge-Weber syndromeerelated medical history, medications, comorbidities, and family history. All data were analyzed with a significance threshold of P < 0.05. Results: Cognitive function quality of life was significantly lower (P < 0.001) in pediatric patients with Sturge-Weber syndrome compared with referenced control subjects. Male gender (P = 0.02) was associated with lower cognitive function Neuro-QoL.

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A Multidisciplinary Consensus for Clinical Care and Research Needs for Sturge-Weber Syndrome

Abstract: Biomarkers capable of predicting disease progression will be needed to advance new therapeutic strategies. Importantly, how to deal with the emotional and psychological effects of Sturge-Weber syndrome and its impact on quality of life is a clear unmet need.

Cited by 57 publications

References 79 publications

Yield of Emergent Neuroimaging in Patients With Sturge-Weber Syndrome Presenting With Acute Neurologic Symptoms

Yield of Emergent Neuroimaging in Patients With Sturge-Weber Syndrome Presenting With Acute Neurologic Symptoms

Preventive treatment with oral sirolimus and aspirin in a newborn with severe Sturge‐Weber syndrome

Quality of Life in Children With Sturge-Weber Syndrome

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