Facial Angioma Research Articles

Syndromic congenital glaucoma clinical features and therapeutic results

Aims/Purpose: The objective is to study the clinical particularities and the results therapies.Methods: This is a retrospective study of 15 children (25 eyes) since 2012 until 2021 at the paediatric ophthalmology department of the August 20 hospital from Casablanca‐Morocco.Results: In our study, there were 15 cases including 9 cases (13 eyes) of syndrome of Sturge weber Krabb, 2 cases (4 eyes) of Axenfield Reiger syndrome, 2 case (4 eyes) of Peters syndrome 1 case (2 eyes) of lower syndrome, 1 case (2 eyes) of polymalformative syndrome (cardiopathy, pulmonary stenosis, bilateral femoral epiphyseal dysplasia). The average age is 8 years with a sex ratio of 1.7, the notion of inbreeding exists in 43%. The warning sign was buphthalmos in 72% of cases, on clinical examination the cornea was edematous in 60% of cases with an average diameter 13.2 mm corneal, with anterior iris synechiae in 32% of cases, bilateral cataract in 4% of cases, persistence of primary vascularization in 4% of cases and an average of excavation of 7/10, an average TO at 34 mmHg. The most common systemic abnormalities were facial angioma (56%), epilepsy (41%) and mental retardation (30%).Treatment was trabeculectomy in 96% of cases associated with medical treatment in 100% of cases.Conclusions: It is a rare, blinding pathology, the clinical forms of which are numerous with complex ocular and general malformations, which can pose etiological and therapeutic problems that are difficult.

Glaucoma in Sturge–Weber‐Krabbe syndrome about 10 cases

Aims/Purpose: The objective of this study is to evaluate the results of glaucoma treatment in a series of 10 children with Sturge–Weber syndrome.Methods: The objective of this study is to evaluate the results of glaucoma treatment in a series of 10 children with Sturge–Weber syndrome collected between 2010 and 2023 at the paediatric ophthalmology department of the 20 August 1953 hospital of the University Hospital of Casablanca.Results: The mean age at diagnosis was 11 months, with a Sex‐ratio of 1.5. Seven patients had a unilateral facial angioma occupying the V1 territory and three had a bilateral angioma, the cutaneous angioma was extended to the neck and thorax in one patient of these 10 cases. Two patients had a meningeal angioma revealed by hemicorporeal seizures contralateral to the cutaneous angioma. Buphthalmia was found in five cases, dilatation of the episcleral vessels in four patients, predominantly in the temporal area. No cases of choroidal angioma were noted. The average preoperative ocular tone was 18 mm Hg. The average c/d was 0.5. All 10 eyes had trabeculectomy under 5 Fluorouracil. 4 eyes were reoperated. We noted 1 case of vitreous exit intraoperatively. The final ocular tone was <20 mm Hg in eight eyes, four of which had adjuvant hypotonizing treatment with Beta‐blocker and Dorzolamide, after a mean follow‐up of 24 months.Conclusions: The risk of Glaucoma being important, the Sturge–Weber‐Krabbe syndrome must be evoked in front of any facial hemangioma and its existence should not delay the therapy.

Update in the Understanding, Diagnosis, and Management of Sturge Weber Syndrome: Case Report

Sturge-Weber Syndrome (SWS) is a congenital, vascular, neurocutaneous, uncommon disease associated with facial angiomas port wine birthmark (PWB) or “nevus flammeus”, cerebral vascularity alterations (leptomeningeal vascular malformation), and ocular disorders. It is the third most common neurocutaneous syndrome after neurofibromatosis and tuberous sclerosis. GNAQ R183Q is the most frequent related mutation, caused by a postzygotic, somatic, gain-of-function. 75% of patients present seizures during the first year of life, mainly focal motor seizures, with or without consciousness impairment. We present the case of a 33-year-old female with a diagnosis of SWS, with refractory seizures that started at 4 months of age. In this admission, she presented upper and lower respiratory tract infections that culminated in a convulsive status epilepticus (CSE), the reason for which she required sedation and advanced airway management with adjustment of the anti-seizure medication (ASM). An electroencephalogram (EEG) was performed that reported epileptic activity, as well as an imaging study with data suggestive of calcification in the frontal and right parietal region, compatible with vascular malformation.

Pregnancy and refractory epilepsy in Sturge-Weber syndrome: Challenges and outcomes.

Sturge-Weber Syndrome (SWS) is a rare neurocutaneous disorder caused by focal vascular dysplasia. It is associated with facial angiomas, ocular abnormalities, epilepsy, intellectual disability, and leptomeningeal angiomas. There is a paucity of literature regarding the management of epilepsy and pregnancy in women with SWS. The effects of pregnancy on this syndrome therefore remain largely undefined. Consensus on management is needed;as pregnancy has widespread effects on the vascular system and therefore may pose risk in women with SWS. This is a comprehensive review of the existing literature and case report of a woman with SWS, refractory epilepsy, and a successful pregnancy and delivery. Fifteen cases were found and, in addition to our case, 14 cases were reviewed, 11 of which discuss labor and delivery. Neurological complications were described in four cases and successful delivery without complication occurred in seven patient cases.

Rehabilitation Management of A Child with Atypical Case of Sturge Weber Syndrome

Sturge-Weber syndrome (SWS) is a capillary-venous malformation affecting the brain, the eye, and the adjacent trigeminal dermatomes of the skin or a facial port wine stain or nevus. Type 3 SWS is a form of disease that comes without the physical facial angioma that made the disease undiagnosed and untreated optimally. We report a case of a 6-year-old girl with history of seizures without fever since she was 13 months old. The seizure was repeated couple times within a month and a year afterwards, but relatively controlled with routine oral medications, with last seizure attack was when she was 4 years 8 months old. Unluckily, by the age of 6 and 3 months old, she was brought to the emergency department due to sudden focal seizure and weakness on her right extemities. The enhanced MSCT angio and brain MRI examination revealed the abnormality of the cerebral angiography, and raised the diagnostic of Sturge-Weber syndrome. After several medical treatment and rehabilitation programs, her gross motor ability and balance was getting much improved with some dysfunction on fine motor ability on her right hands and little difficulties on her basic speech. There was also some disturbance of her cognitive skill since she seemed to have a slower memory recall and speed processing after the latest seizure attack.

Sturge-Weber Syndrome: About A Case

Sturge-Weber syndrome (SWS) or encephalo-facial angiomatosis, is a syndrome rare congenital neurocutaneous and ocular. He has two types of malformations: capillary congenital facial with flat angioma type and capillaro-venous lepto-meningeal location the more often ipsilateral parieto-occipital. The Neuroimaging, essentially imaging by magnetic resonance (MRI), plays a role important in establishing the diagnosis, ideally before the onset of complications neuro-ocular. We report the case of a patient with motor impairment in whom SWS is suspected based on facial angioma and pharmaco-resistant epilepsy.

A Intresting Case of Struge Weber Syndrome

Struge Weber Syndrome is a rare neurocutaneous disorder characterized by Leptomeninigeal & facial angiomas mainly in the course of ophthalmic& maxillary branches of the trigeminal nerve. We report a case of 14 year old male who presented with left hemiparesis since 2 to 3months & Generalized tonic clonic seizures since 5days.Diagnosis is confirmed by CT/MRI. The classical findings seen on CT/MRI are atrophy and calcification of the cerebral hemisphere. The most common neurological symptom seen are seizures, they are typically focal tonic clonic seizures, seen during first year of life. They are often refractory to anti-convulsants. Most children present with slowly progressive hemiparesis during the course of illness.

Sturge–Weber Syndrome – A Case Report

Sturge-Weber syndrome (SWS) or encephalofacial angiomatosis is a rare neurocutaneous and congenital ocular syndrome. It is responsible about two malformations: congenital facial capillary planar angioma and leptomeningal venous-capillary angioma (most often parieto-occipital homolateral angioma). Neuroimaging, especially magnetic resonance imaging (MRI), makes the diagnosis, ideally before ocular complications. In Sturge-Weber syndrome neurodevelopmental outcomes depend to accurate recognition of the signs of severity and proper therapeutic management of epilepsy. We report the case of an old man in whom SWS was suspected based on facial angioma and epilepsy.

NEUROCUTANEOUS SYNDROMES: EVALUATION OF CLINICAL AND NEURORADIOLOGICAL FINDINGS

OBJECTIVE: Neurofibromatosis type I (NF1), Tuberous sclerosis complex (TSC) and Sturge-Weber syndrome (SWS) are the most common neurocutaneous syndromes. The purpose of this study is to evaluate the clinical and neuroradiological manifestations of patients diagnosed with NF1, TSC, and SWS.MATERIAL AND METHODS: In our clinic, records of 15 patients with NF1, TSC, and SWS were retrospectively reviewed between December 2017 and May 2019. Clinical and neuroradiological manifestations of patients were detailed.RESULTS: 15 patients consisting of 9 NF1, 5 TSC, and 1 SWS were determined between the ages of 9 days and 13,83 years (5 females and 10 males). All NF1 patients had café-au-lait spots. One (11.1%) with lisch nodules, one (11.1%) with optic glioma, one (11.1%) with epilepsy, two (22.2%) with macrocephaly, two (22.2%) with hydrocephalus, one (11.1%) with optic glioma and seven (77.7%) with family history were established. All TSC patients had hypomelanotic macules and epilepsy. It was indicated cardiac rhabdomyoma in 3 (60%) patients, angiomyolipoma in one (20%) patient and polycystic kidney in one (20%) patient. The patient with SWS was showed available of facial angioma, glaucoma, and epilepsy. It was pointed UBOs (unknown bright objects) with 6 (66.6%) patients, 2 (22.2%) patients with hydrocephalus, one (11.1%) patient with subependymal nodule and one (11.1%) patient with optic glioma in NF1 patients. Brain magnetic resonance imaging of all TSC patients showed cortical/subcortical tubers and two patients with subependymal nodules. Cortical and parenchymal atrophy and calcification were presented in cranial computed tomography of the patient with SWS.CONCLUSIONS: Clinical and neuroradiological manifestations of neurocutaneous syndrome are guidance for diagnosis so that detailed examination and neuroradiological perspective on neurocutaneous diseases will provide convenience in diagnosis and follow-up.

Angiome géant de la face

We here report the case of a 78 year old woman with no previous history, whose medical history only included facial angioma since birth. The patient had never consulted a doctor before. Twelve months before, hypertrophy of the left jugo-naso-labial soft tissues causing lip incontinence with feeding and pronunciation difficulty as well as asymmetry with lack of facial expression occurred. Clinical examination showed red-violet jugo-naso-labial swelling, not exceeding the frontal, nasal and upper labial median line, extending to the tragus, with nodosities at the level of the upper half of the left side wall of the nose and the upper part of the cheek deviating the nose to the right side. It also showed voluminous hypertrophy of the entire lower lip that descended downwards, masking the chin and the upper part of the neck and causing incomplete closure of the mouth (A). The patient underwent reduction surgery under general anesthesia for aesthetic and, above all, functional purposes. Then she underwent two surgical tweaks under local anesthesia (B). The patient was very satisfied with functional and aesthetic results. The patient had a 3-year follow-up with no recurrences.

Diffuse choroidal hemangioma as a manifestation of Sturge-Weber syndrome (a clinical case study)

Encephalotrigeminal angiomatosis (Sturge-Weber syndrome) is a congenital sporadic disease characterized by angiomatosis of meningeal vessels, facial and eye capillaries. The article presents a clinical case of comorbidity between monolateral skin angioma, ipsilateral conjunctival and choroidal angiomas without intraocular pressure elevation. The case is unusual due to asynchronous manifestation of the clinical signs of Sturge-Weber syndrome. Facial angioma was diagnosed at birth, while conjunctival angioma appeared at the age of 45 - at the same time as monolateral hypermetropia, which may be the first symptom of diffuse choroidal angioma.

Analysis of Sturge–Weber syndrome: A retrospective study of multiple associated variables

IntroductionSturge–Weber syndrome is a congenital vascular disorder characterised by facial capillary malformation (port-wine stain) associated with venous and capillary malformations in the brain and eye. Neurological symptoms and alterations in other locations may also be observed. ObjectivesThis study describes the clinical and epidemiological characteristics and different treatments in a cohort of patients diagnosed with Sturge–Weber syndrome in a tertiary hospital. Material and methodsThis comparative, retrospective and cross-sectional study was conducted by reviewing the medical records of patients diagnosed with Sturge–Weber syndrome between 1998 and 2013. ResultsThe study included 13 patients (54% male, 46% female) diagnosed with Sturge–Weber syndrome. The mean age at diagnosis was 15 months. Leptomeningeal angiomatosis was present in 100% of cases: right hemisphere (46%), left hemisphere (38%), and bilateral (15%). Facial angioma was present in 61% of the cases: right (23%), left (38%) and bilateral (7%). Other skin disorders were found in 23% of the cases, including 2 with hemilateral involvement on the side where facial and leptomeningeal angiomatosis was present and one case of generalised cutis marmorata. Ocular disease was found in 77% of patients; the most common conditions were glaucoma (46%), strabismus (23%) and choroidal angioma (23%). Epilepsy was present in 100% of the cases, with partial seizures (simple or complex) being the most frequent (62%). Seizure control was highly variable; 31% of the patients had needed to try more than 3 drugs, 15% 3 drugs, and 31% 2 drugs, while 23% experienced good seizure control with monotherapy. One patient required surgery for epilepsy (left hemispherectomy) and has been seizure-free since then. The most frequent observations in electroencephalograms were spikes, polyspikes, and wave spikes in the lobes affected by leptomeningeal angiomatosis (46%). Other neurological symptoms were hemiparesis (39%), recurrent headaches (39%), stroke-like episodes (23%), psychomotor retardation (46%), and mental retardation (46%). Leptomeningeal calcifications could be seen in 85% of patient MRIs, as well as increased calcification in 70%; 54% of the patients had been treated with aspirin. ConclusionsThere are multiple clinical manifestations of Sturge–Weber syndrome. Being familiar with all of them is vitally important for diagnosing and for monitoring and treating the condition correctly, which will improve the quality of life of these patients.

Case Report on Sturge-Weber syndrome

Sturge–Weber syndrome (SWS) belongs to a group of disorders collectively known as the phakomatoses. It consists of congenital hamartomatous malformations that may affect the eye, skin, and central nervous system (CNS) at different times, characterized by the combination of venous angiomas of leptomeninges, face, jaws and oral soft tissues. SWS is referred to as complete when both central nervous system and facial angiomas are present, and incomplete when only one area is affected. Epilepsy is the most common and often the first neurological complication of SWS. Here we present a case of seizure with hypocalcaemia to the risk of Sturge weber syndrome. Brain – MRI with contrast, however, be advised that due to the progressive nature of SWS, brain involvement may not be evident on early scans. So initially child was treated for seizures with anti-epileptic drugs. The health professionals have to be suitably able to recognize its characteristic signs and symptoms, and so improve the quality of life of the patients.

D.02 Predictive factors for epilepsy in pediatric patients with Sturge Weber Syndrome

Background: Sturge Weber Syndrome (SWS) patients at risk of epilepsy are often not identified before their first seizure which leads to unnecessary follow up of many patients with facial angioma. Methods: The medical photography database of our institution has been reviewed to identify SWS patients followed between 1993 and 2013. Patients with isolated glaucoma were compared to patients with epilepsy regarding the location of the facial angioma, the presence of asymmetrical background activity on EEG done prior epilepsy onset and cerebral imaging. Logistical regression tests and a p-value of 0.05 were used. Results: 21 patients with SWS have been identified. No significant difference was noted when patients were compared based on the laterality of the lesion (p=0.169), or the location of the facial angioma (p = 0.314 to 0.999). Only 2 epileptic patients had digital EEG done prior the onset of epilepsy and only 2 patients with glaucoma had digital EEG done during their follow up. No significant difference was noted between EEG background activities in the two groups (p= 0.514). The presence of venous drainage anomalies (VDA) predicted (p = 0.004) the onset of epilepsy. Conclusions: Cerebral VDA increases the risk of epilepsy in SWS patients. Since they can be detected at birth, they might guide the management.

Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome.

Epilepsy is a major morbidity in Sturge Weber syndrome, a segmental vascular neurocutaneous disorder classically associated with facial angiomas, glaucoma, and leptomeningeal capillary-venous type vascular malformations. The extent of the latter correlates with neurological outcome. Post-zygotic mosaicism for the activating mutation p.R183Q of the GNAQ gene has been identified as the major cause. GNAQ encodes for an alpha subunit of a heterotrimeric G protein critical to blood vessel development. The earlier the timing of the mutation in development, the more severe the involvement, e.g. from isolated port-wine stains to the full syndrome. The strongest predictors of adverse outcomes are MRI and the presence of angiomas involving any part of the forehead, delineated inferiorly from the outer canthus of the eye to the top of the ear, and including the upper eyelid. The neurological course may be progressive and the typical constellation of symptoms is focal onset seizures, hemiparesis, headache, stroke-like episodes, behavior problems, intellectual disability, and visual field deficits. Antiseizure medications are effective in about half of patients. The presence of localized seizures, focal neurological deficits, and drug resistant epilepsy indicate epilepsy surgical evaluation. Earlier seizure onset, i.e. before six months of age, is associated with a more severe course with significant residual deficits. Factors contributing to epileptogenesis include decreased brain tissue perfusion due to abnormal venous drainage, anoxic injury contributing to cerebral calcification, breakdown of the blood-brain barrier, and the presence of developmental cortical malformations. Pre-symptomatic prophylactic treatment may be a future option to modify the course of the disease including the associated epileptogenesis.

Análisis del síndrome de Sturge-Weber: estudio retrospectivo de múltiples variables asociadas

IntroductionSturge-Weber syndrome is a congenital vascular disorder characterised by facial capillary malformation (port-wine stain) associated with venous and capillary malformations in the brain and eye. Neurological symptoms and alterations in other locations may also be observed. ObjectivesThis study describes the clinical and epidemiological characteristics and different treatments in a cohort of patients diagnosed with Sturge-Weber syndrome in a tertiary hospital. Material and methodsThis comparative, retrospective and cross-sectional study was conducted by reviewing the medical records of patients diagnosed with Sturge-Weber syndrome between 1998 and 2013. ResultsThe study included 13 patients (54% male, 46% female) diagnosed with Sturge-Weber syndrome. The mean age at diagnosis was 15 months. Leptomeningeal angiomatosis was present in 100% of cases: right hemisphere (46%), left hemisphere (38%), and bilateral (15%). Facial angioma was present in 61% of the cases: right (23%), left (38%) and bilateral (7%). Other skin disorders were found in 23% of the cases, including 2 with hemilateral involvement on the side where facial and leptomeningeal angiomatosis was present and one case of generalised cutis marmorata. Ocular disease was found in 77% of patients; the most common conditions were glaucoma (46%), strabismus (23%) and choroidal angioma (23%). Epilepsy was present in 100% of the cases, with partial seizures (simple or complex) being the most frequent (62%). Seizure control was highly variable; 31% of the patients had needed to try more than 3 drugs, 15% 3 drugs, and 31% 2 drugs, while 23% experienced good seizure control with monotherapy. One patient required surgery for epilepsy (left hemispherectomy) and has been seizure-free since then. The most frequent observations in electroencephalograms were spikes, polyspikes, and wave spikes in the lobes affected by leptomeningeal angiomatosis (46%). Other neurological symptoms were hemiparesis (39%), recurrent headaches (39%), stroke-like episodes (23%), psychomotor retardation (46%), and mental retardation (46%). Leptomeningeal calcifications could be seen in 85% of patient MRIs, as well as increased calcification in 70%; 54% of the patients had been treated with aspirin. ConclusionsThere are multiple clinical manifestations of Sturge-Weber syndrome. Being familiar with all of them is vitally important for diagnosing and for monitoring and treating the condition correctly, which will improve the quality of life of these patients.

A CASE OF STURGE-WEBER SYNDROME

Encephalo-trigeminal angiomatosis of Sturge-Weber-Krabbe-Dimitri is a rare hereditary sporadic facomatosis, characterized by the presence of angiomatosis of brain lining vessels, face and eye capillaries. We present the case of a 25-year old girl with a birth mark, an facial angioma localized in the territory of the right ophthalmic nerve, also since she had 4 months, she presents generalized tonic-clonic seizures, for which she is currently under treatment with Levetiracetam 1000 mg/day, Lamotrigine 100 mg/day, Valproic Acid 1500 mg/day and Clonazepam 2 mg/day. She was hospitalized because of the higher incidence of the seizures, despite the treatment that she performs. Physical examination revealed her facial angioma, a facial dysmorphism, gingival hypertrophy with sharp teeth, and she has an upper limb asymmetrical development. The neurological exam reveals central facial paresis, a rough motor deficit on her left side, increased tendon reflexes on the left side, left limb ataxia, and a minor cognitive disorder. The cerebral CT identified cortical asymmetry with right frontal atrophy, gyriform calcifications and frontal hyperostosis. The brain MRI showed hemihypotrophia of the right cerebral hemisphere, especially regarding the frontal lobe, gyriform calcifications on the right side, hypertrophy of the right frontal sinus. We increased the dosage of antiepileptic drugs, to 1500 mg/day of Levetiracetam and 200 mg/day of Lamotrigine. The outcome was favorable, the patient was seizures-free. The particularity of the case is that being a rare disease, it is easily overlooked, although the patient had classic symptoms and imagistic findings for Sturge-Weber-Krabbe disease.

Sturge Weber Syndrome Type 1 – A Case Blog with Review of Literature

Sturge Weber Syndrome Type 1 – A Case Blog with Review of Literature

One Patient with Sturge-Weber Syndrome and Stroke-Like Episodes: Our Experience with Acetylsalicylic Acid

Introduction: The association of cerebral leptomeningeal angioma and ipsilateral facial nevus flammeus in the territory of the first branch of the trigeminal nerve is known as the sporadic neurocutaneous disease Sturge-Weber syndrome (SWS). The cases with the absence of a facial angioma are usually considered to be variants of this syndrome. Among other frequent symptoms such as seizures, headaches, developmental delay, and glaucoma, stroke-like episodes are only sporadically reported associated features. There is no evidence-based therapeutic recommendation for this condition. A few case reports suggest that prophylactic treatment with low-dose acetylsalicylic acid (ASS) may prevent the neurological decline.

Sturge-Weber syndrome coexisting with episodes of rhabdomyolysis

BackgroundSturge-Weber syndrome is a congenital neurocutaneous disorder characterized by facial port-wine stain, leptomeningeal angioma, and neurological disorders. Sturge-Weber syndrome can coexist with other disorders in a few patients; however, muscular abnormalities have not been reported in patients with Sturge-Weber syndrome.Case presentationA Chinese girl presented with extensive port-wine stains, congenital bilateral glaucoma, and leptomeningeal angiomatosis. The neurocutaneous symptoms were consistent with the diagnostic criteria of Sturge-Weber syndrome. Meanwhile, episodes of rhabdomyolysis were supported by the recurrent symptoms as follows: exercise intolerance, hyperCKmia, elevated serum myoglobin, and renal failure. Myopathological features and high level of blood long-chain acyl-carnitine indicated that episodes of rhabdomyolysis might be caused by lipid metabolic myopathy. Causative mutations were not found in the CPT2, ACADVL, and GNAQ gene.ConclusionsWe report the first case that Sturge-Weber syndrome coexists with episodes of rhabdomyolysis associated with lipid metabolic myopathy.