Sturge–Weber syndrome coexisting with multiple vertebral vascular malformations and hemivertebra with scoliosis and upper limb and ear hypertrophy

Abstract Background Parkes Weber syndrome (PWS) is a congenital disease characterized by vascular malformations, such as arteriovenous fistulas (AVFs). It frequently presents with overgrowth of a lower limb and high-output heart failure. The main treatment is to close vascular malformations. Surgical excision or endovascular coil insertion was performed in a few patients with AVFs. However, vascular covered stent implantation has not been used for treating PWS. Case summary A 15-year-old male patient with PWS presented to our hospital because of dyspnoea and massive left upper limb swelling. After initial examination and left upper limb angiography, his symptoms and findings were attributed to the presence of high-flow large AVFs despite the presence of many coils previously inserted. We decided to implant a covered stent along the AVFs between the subclavian and axillary arteries. After stent implantation, the patient’s complaints and findings improved during the early term but they relapsed at the 6th month after percutaneous intervention. Discussion Here, we report for the first time the use of covered stent implantation and its short and 6 months results in a patient with PWS. Although initial improvements were noted, the clinical outcome at 6 months after stent implantation was poor. This was probably associated with the presence of widespread subtle AVFs or collateral connections among the existing AVFs. Based on our result, we propose that closure of large AVFs is not useful and more definitive interventions, such as limb amputation may be required earlier.

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The Pathogenesis of Port Wine Stain and Sturge Weber Syndrome: Complex Interactions between Genetic Alterations and Aberrant MAPK and PI3K Activation

International Journal of Molecular Sciences ◽

10.3390/ijms20092243 ◽

2019 ◽

Vol 20 (9) ◽

pp. 2243 ◽

Cited By ~ 16

Author(s):

Vi Nguyen ◽

Marcelo Hochman ◽

Martin C. Mihm ◽

J. Stuart Nelson ◽

Wenbin Tan

Keyword(s):

Endothelial Cells ◽

Human Skin ◽

Current Knowledge ◽

Vascular Malformations ◽

Genetic Alterations ◽

Future Research ◽

Port Wine Stain ◽

Port Wine ◽

Weber Syndrome ◽

Sturge Weber Syndrome

Port wine stain (PWS) is a congenital vascular malformation involving human skin. Approximately 15–20% of children a facial PWS involving the ophthalmic (V1) trigeminal dermatome are at risk for Sturge Weber syndrome (SWS), a neurocutaneous disorder with vascular malformations in the cerebral cortex on the same side of the facial PWS lesions. Recently, evidence has surfaced that advanced our understanding of the pathogenesis of PWS/SWS, including discoveries of somatic genetic mutations (GNAQ, PI3K), MAPK and PI3K aberrant activations, and molecular phenotypes of PWS endothelial cells. In this review, we summarize current knowledge on the etiology and pathology of PWS/SWS based on evidence that the activation of MAPK and/or PI3K contributes to the malformations, as well as potential futuristic treatment approaches targeting these aberrantly dysregulated signaling pathways. Current data support that: (1) PWS is a multifactorial malformation involving the entire physiological structure of human skin; (2) PWS should be pathoanatomically re-defined as “a malformation resulting from differentiation-impaired endothelial cells with a progressive dilatation of immature venule-like vasculatures”; (3) dysregulation of vascular MAPK and/or PI3K signaling during human embryonic development plays a part in the pathogenesis and progression of PWS/SWS; and (4) sporadic low frequency somatic mutations, such as GNAQ, PI3K, work as team players but not as a lone wolf, contributing to the development of vascular phenotypes. We also address many crucial questions yet to be answered in the future research investigations.

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Topical rapamycin combined with pulsed dye laser in the treatment of capillary vascular malformations in Sturge-Weber syndrome: Phase II, randomized, double-blind, intraindividual placebo-controlled clinical trial

Journal of the American Academy of Dermatology ◽

10.1016/j.jaad.2014.10.011 ◽

2015 ◽

Vol 72 (1) ◽

pp. 151-158.e1 ◽

Cited By ~ 54

Author(s):

Laura Marqués ◽

Jorge M. Núñez-Córdoba ◽

Leyre Aguado ◽

Maider Pretel ◽

Pablo Boixeda ◽

...

Keyword(s):

Clinical Trial ◽

Phase Ii ◽

Vascular Malformations ◽

Dye Laser ◽

Pulsed Dye Laser ◽

Controlled Clinical Trial ◽

Double Blind ◽

Weber Syndrome ◽

Sturge Weber Syndrome

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Use of Intralesional Bleomycin for Oral Hemangioma of Sturge-Weber Syndrome

International Journal of Head and Neck Surgery ◽

10.5005/jp-journals-10001-1211 ◽

2015 ◽

Vol 6 (1) ◽

pp. 17-19

Author(s):

Devayani Shinde ◽

Yogesh G Dabholkar ◽

Akanksha A Saberwal ◽

Haritosh Kamalakar Velankar ◽

Adip K Shetty

Keyword(s):

Vascular Malformations ◽

Accurate Diagnosis ◽

Port Wine Stain ◽

Port Wine ◽

Weber Syndrome ◽

Neurocutaneous Disorder ◽

The Face ◽

Sturge Weber Syndrome ◽

Venous Angiomas ◽

Head Neck

ABSTRACT Sturge-Weber syndrome (SWS) or encephalotrigeminal angiomatosis is a rare neurocutaneous disorder characterized with vascular malformations and capillary venous angiomas involving the face, choroid of the eye and leptomeninges with port wine stain, seizures activity and mental retardation. In this paper we report a case of a patient affected by Sturge-Weber syndrome presenting with tongue hemangioma and emphasize the importance of an accurate diagnosis and management in the clinical practice. How to cite this article Shinde D, Dabholkar YG, Saberwal AA, Velankar HK, Shetty AK. Use of Intralesional Bleomycin for Oral Hemangioma of Sturge-Weber Syndrome. Int J Head Neck Surg 2015;6(1):17-19.

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B-30 Sturge-Weber Syndrome in Adulthood: A Case Study of Superior Cognitive Reserve

Archives of Clinical Neuropsychology ◽

10.1093/arclin/acz034.113 ◽

2019 ◽

Vol 34 (6) ◽

pp. 976-976

Author(s):

D Abramson ◽

A Fredrick ◽

Z Bell ◽

J Fink

Keyword(s):

Cognitive Reserve ◽

Vascular Malformations ◽

Good Prognosis ◽

Cognitive Outcome ◽

Cognitive Profile ◽

Neuropsychological Evaluation ◽

Motor Functioning ◽

Weber Syndrome ◽

Sturge Weber Syndrome ◽

Magnetic Resonance Imaging Mri

Abstract Objective Sturge-Weber Syndrome (SWS) is a neurological disorder usually diagnosed in childhood and characterized by facial port-wine stains, seizures, and intracranial vascular malformations. SWS is associated with a variety of neuropsychological presentations in children, but the adult cognitive profile of this disease is not well established. Specifically, little is known about how cerebral abnormalities found using Magnetic Resonance Imaging (MRI) correlate with cognitive difficulties in adulthood or if certain prognostic factors can predict cognitive outcome. Methods The present case involved a 53-year-old, left-handed, Caucasian female with 20 years of education with SWS, possible seizures, multiple concussions, posttraumatic stress disorder (PTSD; multiple reported traumas) and bipolar disorder, referred for a neuropsychological evaluation for progressive problems with memory, word-finding, and coordination over the last 14 years. A neuropsychological evaluation was administered and structural neuroimaging was reviewed. Results MRI studies revealed left hemispheric atrophy with enlargement of the left ventricle, cortical calcification in the left temporo-occipital region, cerebrovascular disease particularly in the frontal lobes, and vascular malformations. Despite severe neuroanatomical abnormalities associated with SWS, as well as comorbid psychiatric disorders, a neuropsychological evaluation revealed a relatively intact cognitive profile, with only scattered minor inefficiencies in attention/processing speed, executive functioning, and motor functioning. Conclusions This case provided an example of good prognosis of SWS in adulthood, despite significant brain abnormalities, potential seizure activity, multiple concussions, and psychiatric comorbidity. Further research is needed to conceptualize the neuropsychological impact of SWS in adulthood, specifically whether aspects of superior cognitive reserve (e.g., higher education) are associated with better prognosis.

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Behavioral manifestations post hemispherectomy due to Sturge–Weber syndrome–A case of success

European Psychiatry ◽

10.1016/j.eurpsy.2017.01.618 ◽

2017 ◽

Vol 41 (S1) ◽

pp. s497-s498

Author(s):

J. Melim ◽

A. Batista ◽

A. Tarelho ◽

R. Araújo ◽

S. Fonseca

Keyword(s):

Behavioral Problems ◽

Basic Education ◽

Hospital Admissions ◽

Vascular Malformations ◽

Behavioral Disorder ◽

Major Surgery ◽

Disruptive Behaviour ◽

Pubmed Database ◽

Weber Syndrome ◽

Sturge Weber Syndrome

IntroductionSturge-Weber syndrome or encephalotrigeminal angiomatosis is an uncommon neurocutaneous syndrome that manifests with vascular malformations involving the brain, eye and skin; Severe cases present with refractory seizures, sometimes requiring major surgery such as hemispherectomy. Most of the times, some degree of mental retardation and behavioral problems are associated, requiring use of psychotropic medication and other contention strategies. This report describes the case of a 19-year-old boy who was submitted to a left hemispherectomy by the age of one, and was still able to successfully complete basic education. He started presenting severe behavioral problems, with aggressive outbursts, by the beginning of adulthood, having been committed to psychiatry ward. By the age of 22, the patient finds himself calm and functional considering his limitations, with no need for hospital admission for 2 years.Objectives/aimsTo describe a clinical case whilst reviewing literature concerning this matter.MethodsCase report with complete clinical history and medical data. Non-systematic review of PubMed database under the terms “Sturge-Weber disease”, “Hemisferectomy”, “behavioral disorder due to organic causes”, “post hemisferectomy out-comes”.Results/discussionAlthough presenting with severe arteriovenous malformation, refractory epilepsy and left hemispherectomy, the patient was able to conclude basic instruction; He has lived with his family until the age of 19, when he started displaying disruptive behaviour; after 3 hospital admissions and perfecting psychotropic drugs treatment, the patient was admitted to an institution for rare diseases patients Since then he has experienced a calm and functional life, with trained professionals who can offer the non-pharmacological approaches he needs.Disclosure of interestThe authors have not supplied their declaration of competing interest.

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On Angiomas of Retina, Brain, and Skin

PEDIATRICS ◽

10.1542/peds.67.5.753a ◽

1981 ◽

Vol 67 (5) ◽

pp. 753-754

Author(s):

Louis I. Sobel ◽

Jeffrey G. Odel ◽

Alan H. Friedman

Keyword(s):

Growth Hormone ◽

Vascular Malformations ◽

Hormone Deficiency ◽

Upper Eyelid ◽

Cerebral Angiogram ◽

Suprasellar Region ◽

Weber Syndrome ◽

Sturge Weber Syndrome ◽

Clinical Description ◽

The Right

Recently Russell et al1 (Pediatrics 66: 306, 1980) described a child with a hemangioma of the right side of the forehead and right upper eyelid, an arteriovenous malformation of the basal ganglia and suprasellar region, and an ipsilateral angiomatous ocular lesion, who had an isolated growth hormone deficiency. They concluded that the vascular malformations were consistent with a variant of the Sturge-Weber syndrome. It is our opinion that their fundus and cerebral angiogram illustrations and the clinical description of the cutaneous vascular nevi represent a case of Wyburn-Mason syndnome.2-4

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Upregulation of Hypoxia-Inducible Factor (HIF)-1α and HIF-2α in Leptomeningeal Vascular Malformations of Sturge-Weber Syndrome

Journal of Neuropathology & Experimental Neurology ◽

10.1097/nen.0b013e31802d9011 ◽

2007 ◽

Vol 66 (1) ◽

pp. 86-97 ◽

Cited By ~ 31

Author(s):

Amina Comati ◽

Heike Beck ◽

William Halliday ◽

G. Jackson Snipes ◽

Karl Heinz Plate ◽

...

Keyword(s):

Vascular Malformations ◽

Hypoxia Inducible Factor ◽

Weber Syndrome ◽

Sturge Weber Syndrome

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Anesthetic Challenges of a Child with Sturge–Weber Syndrome for Epilepsy Surgery: A Case Report

Journal of Neuroanaesthesiology and Critical Care ◽

10.1055/s-0038-1675892 ◽

2019 ◽

Vol 06 (01) ◽

pp. 037-039

Author(s):

Roshan Kurian ◽

Karen R. Lionel ◽

Ramamani Mariappan

Keyword(s):

Vascular Malformations ◽

Port Wine ◽

Congenital Disease ◽

Anesthesia Management ◽

Massive Blood Loss ◽

Weber Syndrome ◽

The Face ◽

Sturge Weber Syndrome ◽

Venous Angiomas ◽

Intracranial Vasculature

AbstractSturge–Weber syndrome is a rare congenital disease, also called encephalotrigeminal angiomatosis, caused by persistence of transitory primordial arteriovenous connections of the fetal intracranial vasculature. It is characterized by vascular malformations with capillary venous angiomas that involve the face, choroid of the eye, and leptomeninges. The main clinical features of this syndrome are port-wine stains, glaucoma, convulsions, and angiomas of the airway. Anesthesia management is directed toward anticipating a difficult airway, avoiding trauma to the hemangioma during airway manipulation, preventing the rise in the intracranial and intraocular pressures, anticipating and managing massive blood loss and the complications associated with massive blood transfusion, and avoiding factors that might trigger a seizure such as hypoxia, hypercarbia, hypotension, hypoglycemia, and hyperthermia.

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