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BMC Ophthalmology Jul 2023Sturge-Weber syndrome is a nonhereditary congenital neurocutaneous syndrome characterized by a distinctive facial capillary malformation,neurological abnormalities, and...
BACKGROUND
Sturge-Weber syndrome is a nonhereditary congenital neurocutaneous syndrome characterized by a distinctive facial capillary malformation,neurological abnormalities, and ocular abnormalities such as glaucoma and choroidal hemangioma.It can be divided into different subtypes according to different clinical manifestations. It is rare for a patient to present with isolated difuse choroidal hemangioma and ipsilateral abnormal conjunctival and episcleral vessels without other systemic symptoms.
CASE PRESENTATION
We report a 30-year-old man with isolated diffuse choroidal hemangioma in his right eye without systemic symptoms, such as vascular malformations in the skin or leptomeningeal angiomatosis. The only additional ophthalmic finding was ipsilateral abnormal conjunctival and episcleral vessels without glaucoma. However, there was no evidence of leptomeningeal angiomatosis or port-wine stain on the right side of the face, or glaucoma, which are common clinical manifestations of the Sturge-Weber syndrome (SWS).The absence of these characteristic symptoms did not preclude the diagnosis, and the patient could be diagnosed with a particular subtype of SWS.
CONCLUSIONS
This is a rare case of documented isolated difuse choroidal hemangioma with ipsilateral abnormal conjunctival and episcleral vessels without glaucoma which we think it is belonging to a particular subtype of SWS.In addition to the traditional clinical manifestations, more and more atypical clinical manifestations are also accompanied by SWS, which requires our clinicians to continuously discover and report, so as to help more clinicians understand this disease.
Topics: Male; Humans; Adult; Sturge-Weber Syndrome; Hemangioma; Glaucoma; Port-Wine Stain; Choroid Neoplasms
PubMed: 37407944
DOI: 10.1186/s12886-023-03057-2 -
JAMA Ophthalmology Jun 2024
Topics: Humans; Sturge-Weber Syndrome; Choroid Neoplasms; Sirolimus; Administration, Oral; Hemangioma; Female; Male; Fluorescein Angiography; Immunosuppressive Agents
PubMed: 38635233
DOI: 10.1001/jamaophthalmol.2024.0854 -
Neurology Nov 2023
Topics: Humans; Sturge-Weber Syndrome; Hemangioma; Status Epilepticus; GTP-Binding Protein alpha Subunits
PubMed: 37813580
DOI: 10.1212/WNL.0000000000207839 -
The Journal of Investigative Dermatology Jun 2024Capillary malformations (CM) (port-wine stains) are congenital skin lesions that are characterized by dilated capillaries and postcapillary venules. CMs are caused by...
Capillary malformations (CM) (port-wine stains) are congenital skin lesions that are characterized by dilated capillaries and postcapillary venules. CMs are caused by altered functioning of the vascular endothelium. Somatic genetic mutations have predominantly been identified in the endothelial cells of CMs, providing an opportunity for the development of targeted therapies. However, there is currently limited in-depth mechanistic insight into the pathophysiology and a lack of preclinical research approaches. In a monocenter exploratory study of 17 adult patients with CMs, we found somatic sequence variants in the GNAQ (p.R183Q, p.R183G, or p.Q209R) or GNA11 (p.R183C) genes. We applied an endothelial-selective cell isolation protocol to culture primary endothelial cells from skin biopsies from these patients. We successfully expanded patient-derived cells in culture in 3 of the 17 cases while maintaining endothelial specificity as demonstrated by vascular endothelial-cadherin immunostainings. In addition, we tested the angiogenic capacity of endothelial cells from a patient with a GNAQ (p.R183G) sequence substitution. These proof-of-principle results reveal that primary cells isolated from CMs may represent a functional research model to investigate the role of endothelial somatic mutations in the etiology of CMs, but improved isolation and culture methodologies are urgently needed to advance the field.
Topics: Humans; GTP-Binding Protein alpha Subunits, Gq-G11; Endothelial Cells; Capillaries; Male; Female; Mutation; Adult; Port-Wine Stain; Cells, Cultured; Skin; Vascular Malformations; GTP-Binding Protein alpha Subunits; Middle Aged; Biopsy; Young Adult
PubMed: 38013159
DOI: 10.1016/j.jid.2023.10.033 -
BMJ Case Reports Oct 2023
Topics: Humans; Sturge-Weber Syndrome; Stroke; Seizures
PubMed: 37857538
DOI: 10.1136/bcr-2022-248742 -
European Journal of Ophthalmology Sep 2023Topical netarsudil 0.02% may reduce intraocular pressure (IOP) by decreasing episcleral venous pressure (EVP), which carries theoretical utility for glaucoma associated...
PURPOSE
Topical netarsudil 0.02% may reduce intraocular pressure (IOP) by decreasing episcleral venous pressure (EVP), which carries theoretical utility for glaucoma associated with elevated EVP. A role for netarsudil in patients with elevated EVP is evaluated in a pilot investigation using a cohort of individuals with Sturge-Weber syndrome (SWS).
METHODS
Retrospective study of patients with SWS and glaucoma who were treated with netarsudil. Five patients (six eyes) were identified. Data collected included demographics, visual acuity, IOP, glaucoma medical and surgical treatments, and adverse effects of netarsudil.
RESULTS
Mean age was 13.6 ± 8.5 years. EVP elevation was presumed based on clinical stigmata and/or historical features. Mean number of baseline glaucoma medications was 3.3 ± 1.2. There was a significant reduction in the IOP at netarsudil initiation (mean 26.2 ± 4.5 mmHg) to 1 month of netarsudil therapy (mean 20.2 ± 3.8 mmHg, = 0.0283 and latest IOP on netarsudil (mean 17.6 ± 1.4 mmHg, = 0.0034). Mean duration of netarsudil therapy was 18.7 ± 11.8 months. Three patients required additional glaucoma procedures; one patient required an additional glaucoma medication. Three eyes (50%) developed conjunctival hyperemia. One patient discontinued netarsudil at 29 months, to reduce drop burden.
CONCLUSIONS
Netarsudil can effectively reduce IOP in patients with SWS, even when used as a fourth or fifth glaucoma medication. A possible role for netarsudil in the management of patients with elevated EVP is suggested pending further future investigations.
Topics: Humans; Child, Preschool; Child; Adolescent; Young Adult; Adult; Sturge-Weber Syndrome; Retrospective Studies; Pilot Projects; Glaucoma; Intraocular Pressure; Sclera; Treatment Outcome
PubMed: 36850063
DOI: 10.1177/11206721231159694 -
Acta Dermatovenerologica Croatica : ADC Nov 2023Dear Editor, Although some of my colleagues may find this surprising, as a neurologist, I have noticed many connections between dermatology and neurology. Neurological...
Dear Editor, Although some of my colleagues may find this surprising, as a neurologist, I have noticed many connections between dermatology and neurology. Neurological and dermatological signs and symptoms are common in many clinical entities, especially in the so-called phakomatoses or neurocutaneous syndromes (Von Recklinghausen's disease type 1 and 2, Bourneville-Pringle syndrome, Sturge-Weber syndrome, Von Hippel-Lindau syndrome, Louis-Bar syndrome) (1). The terms "neurodermatitis" and "neurodermatology" also confirm the above. Inspection is the basis of every clinical examination and an integral part of both dermatological and neurological propaedeutics. Therefore, I would like to remind your readers of Frank's sign, another link between dermatology and neurology. Frank's sign is a diagonal earlobe crease (DELC) that extends backwards from the tragus at a 45-degree angle across the lobule to the auricular edge of the ear (Figure 1). It has been described as a dermatological marker for atherosclerosis. Frank's sign is named after Dr. Sanders T. Frank, who observed this crease in 20 patients with coronary artery disease and published his findings in The New England Journal of Medicine in 1973 (2). Although this sign has been known for more than 50 years, it is still not routinely employed in clinical practice. Histopathological examination of DELC-positive earlobes revealed myoelastofibrosis in the arterial vessel at the base of the earlobe, indicating that DELC is not a coincidental finding but is directly related to atherosclerosis (3). Following the finding of DELC in patients with coronary artery disease, numerous studies have confirmed the presence of DELC in peripheral vascular disease as well as cerebrovascular disease. I encountered the description of this sign as a student in the textbook of Internal Medicine in 1991 (4). This sign was also the subject of research by Croatian authors. In 1998, Mirić et al. found that a positive Frank's sign carried a higher risk of heart attack (5,6). In 2008, Glavić et al. found a statistically significant association between Frank's sign and an increase in intima media thickness (IMT) of the common carotid artery as a surrogate marker of atherosclerosis, thus confirming the hypothesis that Frank's sign is an uncontrollable risk factor for cerebrovascular disease (such as gender or age) (7). In clinical practice, earlobe inspection should be considered an integral part of the physical examination. In the case of a positive Frank's sign, a color Doppler ultrasound examination of the neck arteries and a cardiologist's examination are recommended. The determination of Frank's sign can be used as a method of primary prevention for cardiovascular and cerebrovascular diseases.
Topics: Humans; Coronary Artery Disease; Ear, External; Carotid Intima-Media Thickness; Cerebrovascular Disorders; Atherosclerosis; Neurology
PubMed: 38006371
DOI: No ID Found -
Journal of Pediatric Ophthalmology and... 2024The authors report a case of a 5-month-old full-term infant with chronic conjunctival redness and elevated intraocular pressure in the right eye. Magnetic resonance...
The authors report a case of a 5-month-old full-term infant with chronic conjunctival redness and elevated intraocular pressure in the right eye. Magnetic resonance imaging ruled out leptomeningeal angiomatosis. Despite lacking a typical port-wine mark, the diagnosis of Sturge-Weber syndrome was established based on specific observations in the right eye that involved unilateral vascular glaucoma. These findings included Haab striae, a larger axial length measurement, an increased number of episcleral vessels with blood in Schlemm canal, and a thicker choroid in the macular region. This is the first reported pediatric case with these specific ocular manifestations in the absence of facial angioma, highlighting the need for awareness among clinicians to avoid misdiagnosis and facilitate proper management. .
Topics: Humans; Sturge-Weber Syndrome; Infant; Glaucoma; Hemangioma; Intraocular Pressure; Magnetic Resonance Imaging; Male; Diagnosis, Differential; Female; Facial Neoplasms
PubMed: 38788140
DOI: 10.3928/01913913-20240301-01 -
Retinal Cases & Brief Reports Jul 2023To report on the venous abnormalities of a patient with Sturge-Weber syndrome (SWS).
PURPOSE
To report on the venous abnormalities of a patient with Sturge-Weber syndrome (SWS).
METHOD
Case report.
PATIENT
A 29-year-old woman with a history of SWS since infancy was referred for evaluation of possible diffuse choroidal hemangioma. Multimodal imaging, including ultra-widefield fluorescein, indocyanine green, and optical coherence tomography-angiography (OCTA) were performed.
RESULTS
Dilated fundus examination was remarkable for increased cupping of the optic disc in the right eye, venous tortuosity, and marked dilation of the choroidal vessels. Ultra-widefield fluorescein angiography confirmed marked venous tortuosity and dilation, as well as anastomoses of the retinal veins ipsilateral to the port wine stain. Indocyanine green angiography revealed marked engorgement of the vortex veins and choroidal vasculature. OCTA revealed dilated vascular channels in the deep capillary plexus (DCP) that were directly anastomosing to the superficial capillary plexus, but not the intermediate capillary plexus. Engorgement of the ampullae of the DCP vortex system was also observed. The normal contralateral eye was used as comparison for all imaging studies.
CONCLUSION
These findings support the notion of generalized venous hypertension state in adult eyes with SWS and corroborate prior evidence that the deep capillary plexus acts as a venous outflow system.
PubMed: 37490777
DOI: 10.1097/ICB.0000000000001460 -
[Zhonghua Yan Ke Za Zhi] Chinese... Sep 2023To evaluate the medium-term efficacy and safety of Ex-PRESS shunt implantation in the treatment of secondary glaucoma associated with Sturge-Weber Syndrome (SWS). This...
To evaluate the medium-term efficacy and safety of Ex-PRESS shunt implantation in the treatment of secondary glaucoma associated with Sturge-Weber Syndrome (SWS). This was a retrospective case series study. Medical records of patients diagnosed with secondary glaucoma due to SWS who underwent Ex-PRESS shunt implantation at Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, between January 2013 and February 2020 were collected. Only the right eye were included in the analysis when both eyes were affected. Follow-up visits were scheduled at postoperative week 1, 3 months, 6 months, 1 year, 2 years, and 3 years. Clinical data including intraocular pressure (IOP), vertical cup-to-disc (C/D) ratio, corneal horizontal diameter, visual field, anterior chamber condition, anti-glaucoma medication usage, and additional surgeries were evaluated and analyzed before and after the procedure. Surgical success rates and procedure-related complications at each follow-up time point were assessed. Statistical analyses were performed using -test, Mann-Whitney test, and test. A total of 21 patients (21 eyes) were included in the study, comprising 10 females and 11 males. Among them, 15 eyes were on the right side, and 6 eyes were on the left side. The patients' ages ranged from 3 to 51 years, with a median age of 8.1 (6.3, 11.9) years. The follow-up period ranged from 3 to 53 months, with a median of 11 (6, 24) months. Preoperatively, the IOP in the 21 operated eyes was (32.9±9.1) mmHg (1 mmHg=0.133 kPa), significantly higher than the IOP in the 19 healthy eyes, which was (17.1±4.3) mmHg (=5.80, <0.001). The C/D ratio in the operated eyes was (0.75±0.13), also significantly higher than that in the healthy eyes, which was (0.32±0.10) (=11.22, <0.001). At the 1-year, 2-year, and 3-year follow-up, 8 eyes out of 16 operated eyes, 6 eyes out of 9 operated eyes, and 7 eyes out of 10 operated eyes achieved overall surgical success (complete success+conditional success), respectively. The number of eyes with complete success at the three follow-up time points was 3, 2, and 4, respectively. The IOP in the operated eyes was significantly reduced at all follow-up time points compared to preoperative values (all <0.05), while there was no statistically significant difference in C/D ratio before and after surgery (all >0.05). Two operated eyes experienced retinal detachment or choroidal leakage postoperatively, both of which recovered after conservative treatment. One eye developed postoperative degree Ⅰ shallow anterior chamber, and it resolved spontaneously on the third day after surgery. No serious surgical complications, such as bleb-related complications, malignant glaucoma, expulsive choroidal hemorrhage, or endophthalmitis, were observed postoperatively. Ex-PRESS shunt implantation for the treatment of secondary glaucoma in SWS demonstrated a relatively high level of safety. The medium-term IOP in the operated eyes significantly decreased compared to preoperative values. However, the majority of operated eyes did not achieve complete surgical success.
Topics: Female; Male; Humans; Child, Preschool; Child; Adolescent; Young Adult; Adult; Middle Aged; Retrospective Studies; Sturge-Weber Syndrome; China; Glaucoma; Anterior Chamber
PubMed: 37670654
DOI: 10.3760/cma.j.cn112142-20230323-00113