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BioMed Research International 2015The phakomatoses have been traditionally defined as a group of hereditary diseases with variable expressivity characterized by multisystem tumors with possible malignant... (Review)
Review
The phakomatoses have been traditionally defined as a group of hereditary diseases with variable expressivity characterized by multisystem tumors with possible malignant transformation. The Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and the phakomatosis pigmentovascularis have the facial port-wine stain in common. Numerous pathophysiogenetic mechanisms have been suggested such as venous dysplasia of the emissary veins in the intracranial circulation, neural crest alterations leading to alterations of autonomic perivascular nerves, mutation of the GNAO gene in the Sturge-Weber syndrome, PIK3CA mutation in malformative/overgrowth syndromes such as the Klippel-Trenaunay syndrome, and the twin-spotting phenomenon in phakomatosis pigmentovascularis. Other features linked to the port-wine stain and typical to all of the three conditions are glaucoma and choroidal alterations. Glaucoma can be due to malformations of the anterior chamber or high episcleral venous pressure and in phakomatosis pigmentovascularis it can also be associated with angle hyperpigmentation. The choroid can be thickened in all diseases. Furthermore, choroidal melanocytosis in the phakomatosis pigmentovascularis can lead to malignant transformation. Although the multiple pathophysiological mechanisms still require clarification, similarities in ophthalmic manifestations make it reasonable to classify these diseases in an independent group.
Topics: Diagnosis, Differential; Eye Diseases; Humans; Klippel-Trenaunay-Weber Syndrome; Neurocutaneous Syndromes; Sturge-Weber Syndrome; Symptom Assessment
PubMed: 26451379
DOI: 10.1155/2015/786519 -
BMC Ophthalmology Jun 2022Sturge-Weber Syndrome (SWS) is a rare disease involving the eye, skin, and brain. Port-wine stain (PWS) and glaucoma are common clinical manifestations. This study...
BACKGROUND
Sturge-Weber Syndrome (SWS) is a rare disease involving the eye, skin, and brain. Port-wine stain (PWS) and glaucoma are common clinical manifestations. This study analysed the clinical characteristics of infants with PWS and glaucoma secondary to SWS.
METHODS
Children with PWS and glaucoma secondary to SWS were enrolled. Data were extracted from ophthalmic and systemic examination findings. Ocular examinations included intraocular pressure, anterior segment and fundus examination, and ocular A-scan and B-scan ultrasonography.
RESULTS
Fifty-seven patients were included, with a mean age of 9.9 ± 11.9 months, and 34 (59.6%) patients were male. In all, 61 eyes were diagnosed with glaucoma. Forty-one patients (71.9%) had unilateral facial PWS and glaucoma occurred on the same side. Eight patients (14.0%) had Mongolian spots and ten patients (17.5%) had epilepsy. Corneal changes included corneal oedema (n = 36 eyes, 59.0%), corneal opacity (n = 15 eyes, 24.6%), and Haab lines (n = 13 eyes, 21.3%). Mean corneal diameter and thickness in the eyes with glaucoma was larger than those in the unaffected eyes (12.2 ± 0.7 mm vs 10.8 ± 0.6 mm, P < 0.001; 681.2 ± 106.4 µm vs 578.2 ± 58.2 µm, P < 0.001). The eyes with glaucoma had higher IOP and larger axial length and C/D ratio (19.3 ± 6.2 mmHg vs 11.6 ± 4.2 mmHg, P < 0.001; 21.23 ± 1.93 mm vs 19.68 ± 1.61 mm, P < 0.001; and 0.57 ± 0.18 vs 0.24 ± 0.15, P < 0.001). Thirty-three (57.9%) and 25 (43.9%) patients showed diffuse choroidal haemangioma (DCH) and conjunctival/episcleral haemangiomas, respectively. Ten patients (17.5%) showed iris anterior insertion or hyperpigmentation in the anterior chamber angles. Six of them had Mongolian spots at the same time.
CONCLUSIONS
Monocular glaucoma, DCH, and conjunctival/episcleral haemangiomas are common in SWS patients with PWS and glaucoma. Glaucomatous eyes have larger corneal diameter and axial length and thicker cornea. Patients with Mongolian spots have higher incidence of iris anterior insertion or hyperpigmentation in anterior chamber angle.
Topics: Child; Female; Glaucoma; Hemangioma; Hemangioma, Capillary; Humans; Hyperpigmentation; Infant; Male; Port-Wine Stain; Sturge-Weber Syndrome
PubMed: 35681114
DOI: 10.1186/s12886-022-02476-x -
The Neurologist Jul 2011Sturge-Weber syndrome (SWS) is a neurovascular disorder with a capillary malformation of the face (port-wine birthmark), a capillary-venous malformation in the eye, and... (Review)
Review
BACKGROUND
Sturge-Weber syndrome (SWS) is a neurovascular disorder with a capillary malformation of the face (port-wine birthmark), a capillary-venous malformation in the eye, and a capillary-venous malformation in the brain (leptomeningeal angioma). Although SWS is a congenital disorder usually presenting in infancy, occasionally neurological symptoms first present in adulthood and most affected individuals do survive into adulthood with varying degrees of neurological impairment including epilepsy, hemiparesis, visual field deficits, and cognitive impairments ranging from mild learning disabilities to severe deficits. SWS is a multisystem disorder that requires the neurologist to be aware of the possible endocrine, psychiatric, ophthalmologic, and other medical issues that can arise and impact the neurological status of these patients. Some of these clinical features have only recently been described.
REVIEW SUMMARY
This review summarizes the neurological manifestations of SWS, discusses issues related to the diagnosis of brain involvement, relates major neuroimaging findings, briefly describes the current understanding of pathogenesis, and provides an overview of neurological treatment strategies.
CONCLUSIONS
Recent clinical research has highlighted several novel and lesser-known aspects of this clinical syndrome including endocrine disorders. Functional imaging studies and clinical experience suggests that neurological progression results primarily from impaired blood flow and that prolonged seizures may contribute to this process. Treatment is largely symptomatic although aggressive efforts to prevent seizures and strokes, in young children especially, may impact outcome.
Topics: Anti-Inflammatory Agents, Non-Steroidal; Anticonvulsants; Aspirin; Brain; Diagnosis, Differential; Diagnostic Imaging; Disease Progression; Humans; Nervous System Diseases; Port-Wine Stain; Seizures; Sturge-Weber Syndrome
PubMed: 21712663
DOI: 10.1097/NRL.0b013e318220c5b6 -
Asia-Pacific Journal of Ophthalmology... 2014Sturge-Weber syndrome (SWS) is a congenital, sporadically occurring, neurocutaneous syndrome that presents classically with port-wine stain, leptomeningeal angiomas, and...
Sturge-Weber syndrome (SWS) is a congenital, sporadically occurring, neurocutaneous syndrome that presents classically with port-wine stain, leptomeningeal angiomas, and glaucoma. The systemic implications of SWS are vast and involve not only ophthalmic manifestations but also dermatologic, neurologic, and oral manifestations. Neuroimaging, in particular, plays an important role in the diagnosis and management of this disease. Recent discoveries have been made regarding the genetic pathogenesis of SWS. In addition, recent advances have been made in the management of the 2 most common ophthalmic manifestations of SWS: diffuse choroidal hemangioma and glaucoma. Despite these new contributions to the field, many challenges still remain. The management of diffuse choroidal hemangioma is wide ranging and includes photodynamic therapy, brachytherapy, radiotherapy, and antivascular endothelial growth factor injections, but all have had limited or varied success. Although there have been recent advances in knowledge and technique, the management of glaucoma is extremely complex, given the high surgical risks for complications and a poor response rate to medical therapy. Further studies are critical to maximize our knowledge of this difficult disease.
PubMed: 26107979
DOI: 10.1097/APO.0000000000000093 -
Annals of Clinical and Translational... Jul 2020Patients with combined phenotypes of Sturge-Weber syndrome and Klippel-Trenaunay syndrome have been reported, though the underlying genetic spectrum in these individuals...
Patients with combined phenotypes of Sturge-Weber syndrome and Klippel-Trenaunay syndrome have been reported, though the underlying genetic spectrum in these individuals remains to be elucidated. We reported the patient presenting with Klippel-Trenaunay and Sturge-Weber overlap syndrome in mainland China. Histopathologic study confirmed the hemangioma of vein and capillary. Co-existence of a novel somatic KRAS c.182_183 delins TC mutation and GNAQ c.548G>A mutation was identified in the affected skin tissue rather than paired peripheral blood. The somatic mutations of GNAQ and KRAS may affect MAPK-ERK signaling pathway, resulting in endothelial anomaly and blood vessel malformation.
Topics: Adult; GTP-Binding Protein alpha Subunits, Gq-G11; Humans; Klippel-Trenaunay-Weber Syndrome; Male; Proto-Oncogene Proteins p21(ras); Sturge-Weber Syndrome; Young Adult
PubMed: 32613723
DOI: 10.1002/acn3.51106 -
Seminars in Pediatric Neurology Dec 2015Sturge-Weber syndrome is a vascular malformation syndrome consisting of a facial port-wine birthmark associated with malformed leptomeningeal blood vessels and a choroid... (Review)
Review
Sturge-Weber syndrome is a vascular malformation syndrome consisting of a facial port-wine birthmark associated with malformed leptomeningeal blood vessels and a choroid "angioma" of the eye. It is a rare neurocutaneous disorder that occurs sporadically, is not inherited, and is caused by a somatic mosaic mutation in GNAQ. In patients with Sturge-Weber syndrome, brain involvement typically presents in infancy with seizures, strokes, and stroke-like episodes, and a range of neurologic impairments. Standard treatment includes laser therapy for the birthmark, control of glaucoma through eyedrops or surgery, and the use of anticonvulsants. Increasingly low-dose aspirin is offered. Treatment with propranolol has been tried generally without the dramatic results seen in hemangiomas. Treatment with an anticonvulsant or low-dose aspirin or both before the onset of seizures is an option. Surgical resection may be offered to those whose seizures are medically refractory. Endocrine, medical rehabilitation and cognitive comorbidities are important to manage. In the future, new therapeutic options are likely to be offered stemming from preclinical studies and small pilot clinical trials currently ongoing. Discovery of the causative somatic mosaic mutation suggests new insights into the pathophysiology of this vascular malformation disorder, and potential novel treatment strategies for future study. The mutation results in constitutive overactivation of the Ras-Raf-MEK-ERK and the HIPPO-YAP pathways and inhibitors of these pathways may in the future prove useful in the treatment of Sturge-Weber syndrome.
Topics: Humans; Sturge-Weber Syndrome
PubMed: 26706016
DOI: 10.1016/j.spen.2015.10.005 -
Frontiers in Human Neuroscience 2022Port-wine birthmarks (PWBs) are caused by somatic, mosaic mutations in the G protein guanine nucleotide binding protein alpha subunit q (GNAQ) and are characterized by... (Review)
Review
Port-wine birthmarks (PWBs) are caused by somatic, mosaic mutations in the G protein guanine nucleotide binding protein alpha subunit q (GNAQ) and are characterized by the formation of dilated, dysfunctional blood vessels in the dermis, eyes, and/or brain. Cutaneous PWBs can be treated by current dermatologic therapy, like laser intervention, to lighten the lesions and diminish nodules that occur in the lesion. Involvement of the eyes and/or brain can result in serious complications and this variation is termed Sturge-Weber syndrome (SWS). Some of the biggest hurdles preventing development of new therapeutics are unanswered questions regarding disease biology and lack of models for drug screening. In this review, we discuss the current understanding of GNAQ signaling, the standard of care for patients, overlap with other GNAQ-associated or phenotypically similar diseases, as well as deficiencies in current and vascular malformation models.
PubMed: 36405075
DOI: 10.3389/fnhum.2022.1006027 -
Case Reports in Pediatrics 2022Sturge-Weber syndrome is a rare congenital neurocutaneous disorder characterized by dermatological, ophthalmological, and neurological manifestations. It occurs due to...
Sturge-Weber syndrome is a rare congenital neurocutaneous disorder characterized by dermatological, ophthalmological, and neurological manifestations. It occurs due to abnormal persistence of embryonic vascular plexus. Here, we describe a case of four years seven months female with seizures, developmental delay, intellectual disability, and bilateral port-wine stain diagnosed as type I (classical) Sturge-Weber syndrome. The ophthalmological evaluation was unremarkable. Electroencephalogram showed abnormalities suggestive of a structural lesion in the right cerebral hemisphere. CT scan of the head revealed volume loss of right brain parenchyma with linear, cortical, as well as subcortical calcifications more evident in the right hemisphere. The child should be followed up regularly until adulthood for ophthalmological evaluation, recurrence of seizures, and other manifestations of this disorder.
PubMed: 35464665
DOI: 10.1155/2022/2191465 -
Frontiers in Neurology 2017Neurocutaneous disorders are multisystem diseases affecting skin, brain, and other organs. Epilepsy is very common in the neurocutaneous disorders, affecting up to 90%... (Review)
Review
Neurocutaneous disorders are multisystem diseases affecting skin, brain, and other organs. Epilepsy is very common in the neurocutaneous disorders, affecting up to 90% of patients with tuberous sclerosis complex (TSC) and Sturge-Weber syndrome (SWS), for example. The mechanisms underlying the increased predisposition to brain hyperexcitability differ between disorders, yet some molecular pathways overlap. For instance, the mechanistic target of rapamycin (mTOR) signaling cascade plays a central role in seizures and epileptogenesis in numerous acquired and genetic disorders, including several neurocutaneous disorders. Potential routes for target-specific treatments are emerging as the genetic and molecular pathways involved in neurocutaneous disorders become increasingly understood. This review explores the clinical features and mechanisms of epilepsy in three common neurocutaneous disorders-TSC, neurofibromatosis type 1, and SWS.
PubMed: 28367137
DOI: 10.3389/fneur.2017.00087 -
Proceedings of the Royal Society of... Jul 1947
Topics: Humans; Sturge-Weber Syndrome
PubMed: 20344527
DOI: No ID Found