Sturge-Weber syndrome with massive macroglossia and anterior neck space infection- a case report and review of literature.

Sturge- Weber syndrome (SWS), is a rare neuro-cutaneous angiomatosis which affects male and females alike. The clinical manifestations include angiomas, haemangiomas of the lips, tongue and palatine region. The oral manifestations are usually unilateral and are susceptible to bleed. Patients can also present with macroglossia and maxillary bone hypertrophy which can lead to malocclusion of the oral cavity. Food accumulation due to occlusion can cause growth of bacteria which can intensify infections and can cause gingival hyperplasia. A case of a middle-aged 39 year old female was reported in the Ziauddin Hospital, Karachi on 2nd of February,2022 with the presenting complaints of intermittent fever and drowsiness for 10 days. On examination she had massive tongue enlargement, drooling, malocclusion, difficulty in eating and breathing. She was a known case of Sturgeweber syndrome. Based on the clinical and radiological findings, she was managed along the lines of prelaryngeal soft tissue and submandibular infection.

Neurological function and drug-refractory epilepsy in Sturge-Weber syndrome children: a retrospective analysis.

Epilepsy in Sturge-Weber syndrome (SWS) is common, but drug-refractory epilepsy (DRE) in SWS has rarely been studied in children. We investigated the characteristics of epilepsy and risk factors for DRE in children with SWS. A retrospective study was conducted to analyze the clinical characteristics of children with SWS with epilepsy in our hospital from January 2013 to October 2022. Univariate and multivariate logistic analyses were performed to investigate the factors influencing DRE in children with SWS. A total of 35 SWS children with epilepsy were included (51% male; mean age of presentation 3.6 ± 0.5 years), 71% of children with SWS had their first seizure within the first year of life, and the most common type of seizure was focal seizure (77%). Eleven (31%) patients developed DRE. The median age of onset for the first seizure was 1.0 years and all these cases were of SWS type I. Multivariate logistic analysis revealed that stroke-like episodes and seizure clusters were risk factors for DRE in SWS children. A poor neurological function group was observed in twenty-five children with SWS. Status epilepticus was a risk factor that affected the neurological function of SWS children with epilepsy.  Conclusion: The study explored the epileptic features of children with SWS. The results revealed that stroke-like episodes and seizure clusters are risk factors for DRE in children with SWS. The occurrence of status epilepticus impacts the neurological function of SWS children with epilepsy. Thus, long-term follow-up is necessary to monitor outcomes. What is Known: • Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder, over 75% of children with SWS experience seizures, and 30-57% develop drug-refractory epilepsy (DRE), which leads to a poor outcome. • Drug-refractory epilepsy in SWS has been rarely studied in children, and the risk factors associated with DRE are unclear. What is New: • Clinical features of SWS children with drug-refractory epilepsy. • In SWS, stroke-like episodes and seizure clusters are risk factors of DRE, the occurrence of status epilepticus impacts the neurological function.

Incidence of and Risk Factors for Fellow-Eye Involvement in Sturge-Weber Syndrome Children With Unilateral Glaucoma.

PRCIS: Among children with unilateral glaucoma associated with Sturge-Weber syndrome (SWS), 7 of 47 demonstrated involvement in the fellow eye, and that group had had earlier first-eye surgery relative to the noninvolvement group. PURPOSE: The aim of this study was to determine the incidence of and risk factors for fellow-eye involvement in children with unilateral SWS-associated glaucoma. MATERIALS AND METHODS: Children diagnosed with a unilateral facial port-wine stain and ipsilateral glaucoma before the age of 5 and followed up for at least 5 years were enrolled. The incidence rates of fellow-eye glaucoma involvement were estimated per 100 person-years, and factors associated with a higher incidence of fellow-eye involvement were investigated. RESULTS: A total of 47 children [24 (51.1%) girls] with unilateral SWS-associated glaucoma were included. All of them had facial port-wine stain involving ophthalmic division of the trigeminal nerve, and 18 (38.3%) had neurological comorbidities. The mean age at glaucoma diagnosis was 0.8±1.2 years [range, 0.08 (1 mo)-4.0 y]. Over a median follow-up of 8.4 years, glaucoma was diagnosed in the fellow eye of 7 of the children (14.9%; incidence rate of 1.8 per 100 person-years), 6 of whom were girls ( P =0.097) and 5 of whom were diagnosed before the age of 4 years ( P =0.508). The fellow-eye-involvement group showed significantly higher mean follow-up intraocular pressure in the fellow eye, older age at first-eye surgery (both P <0.005), and higher frequency of choroidal hemangioma both at first onset and in fellow eyes ( P =0.026 and 0.019, respectively). CONCLUSIONS: In this cohort of SWS children diagnosed with unilateral glaucoma, the risk of fellow-eye involvement was higher in girls, within the first 4 years, and in cases with choroidal hemangioma. The fellow-eye-involved children underwent surgery on the first eye earlier than those without fellow-eye involvement.

Hypothalamic-pituitary dysfunction in Sturge-Weber syndrome: case report and review of the literature.

OBJECTIVES: Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder that is characterized by a segmental dermatomal facial port-wine stain birthmark and is frequently accompanied by ipsilateral brain and eye abnormalities. We present a case of a patient with SWS who exhibited hypogonadotropic hypogonadism, growth hormone (GH) deficiency, and central hypothyroidism at the age of 20 despite the absence of radiographic findings in the pituitary and hypothalamus. CASE PRESENTATION: A 20-year-old male with SWS with epilepsy and Klippel-Trenaunay syndrome presents with delayed pubertal development, short stature, and obesity. Upon further examination, he was found to have biochemical and clinical evidence of hypogonadism, hypothyroidism, and GH deficiency. A pituitary MRI displayed no abnormalities of the pituitary or hypothalamus. Treatment with testosterone cypionate and levothyroxine was initiated. Despite successful pubertal induction, IGF-1 levels have remained low and treatment with recombinant human growth hormone (rhGH) is now being considered for metabolic benefits. CONCLUSIONS: This case emphasizes the importance of endocrine evaluation and treatment of hormonal deficiencies in patients with SWS despite the absence of radiographic findings.

Parkes Weber syndrome: a rare cause of foot drop.

This case report describes a patient in her late 60s, previously diagnosed with Klippel-Trenaunay syndrome who presented with difficulty walking. A year prior to her presentation she had a fall which made her notice a painless foot drop on the right. Her right leg was profoundly hypertrophied compared with the left, and a port-wine stain was present on the lateral side, extending from the hip to the mid-shin. The patient's differential diagnosis based on clinical examination and investigations is discussed leading to a final diagnosis of sciatic neuropathy secondary to an arteriovenous malformation due to Parkes Weber syndrome.

Isolated diffuse choroidal hemangioma without systemic symptoms: a case report.

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.

Posterior sclerectomy for persistent serous retinal detachment with secondary glaucoma in Sturge-Weber syndrome: A case report.

INTRODUCTION: A serous retinal detachment is one of the most likely ocular manifestation of Sturge-Weber syndrome (SWS). This finding can frequently occur as a complication after filtering surgery to maintain the intraocular pressure (IOP). Proper treatment has been approached with choroidal hemangioma as an organ target. To the best of our knowledge, various treatments for SRD are associated with diffuse choroidal hemangioma has been approached. However, a second retinal detachment following radiation therapy has worsened the situation. Here, we report an unexpected serous retina and choroidal detachment after non penetrating trabeculectomy. Although radiation therapy has been proposed for previous detachment to the ipsilateral eye in this case, repetition radiation therapy was not suggested concerning the health and quality of life especially in for young subjects. However, the kissing choroidal detachment in this case necessitated immediate intervention. Thus, posterior sclerectomy was performed for the recurrent retinal detachment. We believe that an intervention for a SWS case related complication will remain a significant and important to share as a public health contribution. CASE PRESENTATION: A 20 year-old male confirmed with SWS with no known family history was diagnosed with SWS. He was gain from another hospital for glaucoma therapy. On the left brain MRI showed severe hemiatrophy in the frontal and parietal lobes and leptomeningeal angioma. Although his right (RE) eye had 3 gonio surgeries, 2 Baerveldt tube shunts and Micropulse trans-scleral cyclophotocoagulation, his IOP remained uncontrollable when he was 20 years old. RE IOP was in controlled after non-penetrating filtering surgery hence, his RE developed a recurrent serous retinal detachment. A posterior sclerectomy was performed in 1 quadrant of the globe to drain subretinal fluid. CONCLUSION: Sclerectomies to the inferotemporal quadrant of the globe for serous retinal detachment associated with SWS are considered efficient for optimal drain subretinal fluid, resulting in complete regression of detachment.

Combined Trabeculotomy-Non-Penetrating Deep Sclerectomy for Glaucoma in Sturge-Weber Syndrome.

INTRODUCTION: The aim of the study was to evaluate the efficacy and safety of combined trabeculotomy-non-penetrating deep sclerectomy (CTNS) in the treatment of Sturge-Weber syndrome (SWS) secondary glaucoma. METHODS: This retrospective study reviewed cases that underwent CTNS as initial surgery for SWS secondary glaucoma at our Ophthalmology Department center from April 2019 to August 2020. Surgical success was defined as an intraocular pressure (IOP) ≤ 21 mm Hg with (qualified success) or without (complete success) the use of anti-glaucoma medications. IOP >21 mm Hg or <5 mm Hg despite 3 or more applications of anti-glaucoma medications on 2 consecutive follow-up visits or at the last follow-up, performance of additional glaucoma (IOP-lowering) surgery, or with vision-threatening complications were classified as failure. RESULTS: A total of 22 eyes of 21 patients were included. Twenty-one eyes were of early-onset type and 1 eye was of adulthood onset. For Kaplan-Meier survival analysis, the overall success rates at 1st and 2nd years were 95.2% and 84.9%, while the complete success rates at 1st and 2nd years were 42.9% and 36.7%. At the last follow-up (22.3 ± 4.0 months, range: 11.2∼31.2), overall success was achieved in 19 (85.7%) eyes and complete success in 12 (52.4%) eyes. Postoperative complications included transient hyphema (11/22, 50.0%) and transient Ⅰ degree shallow anterior chamber (1/22, 4.5%), and retinal detachment (1/22, 4.5%). No other severe com plications were detected during the follow-up. CONCLUSION: CTNS significantly reduces IOP in SWS secondary glaucoma patients who have serious episcleral vascular malformation. CTNS in SWS secondary glaucoma patients is safe and effective for short and medium periods. A randomized controlled study comparing the long-term prognosis of SWS early-onset and late-onset glaucoma underwent CTNS is worth conducting.

The natural history of epilepsy and nonepileptic seizures in Sturge-Weber syndrome: A retrospective case-note review.

OBJECTIVE: Patients with Sturge-Weber Syndrome (SWS) experience varying degrees of neurological problems - including epilepsy, hemiparesis, learning disability (LD), and stroke-like episodes. While the range of clinical problems experienced by children with SWS is well recognized, the spectrum of clinical presentation and its treatment during adulthood has been relatively neglected in the literature to date. This study explored the natural history of epileptic and nonepileptic seizures into adulthood in patients with SWS, and their treatment, and investigated whether any clinical factors predict which symptoms a patient will experience during adulthood. METHODS: A retrospective case-note review of a cohort of 26 adults with SWS at the National Hospital for Neurology and Neurosurgery (NHNN). Childhood data were also recorded, where available, to enable review of change/development of symptoms over time. RESULTS: The course of epilepsy showed some improvement in adulthood - seventeen adults continued to have seizures, while six patients gained seizure freedom, and no one had adult-onset seizures. However, seizures did worsen for some patients. Although no factors reached statistical significance regarding predicting continued epilepsy in adulthood, being male, more severe LD, having required epilepsy surgery, and bilateral cortical involvement may be important. Nonepileptic seizures (NES) also began during adulthood for four patients. SIGNIFICANCE: By adulthood, there is some degree of improvement in epilepsy overall; while NES may occur for the first time. While the majority of the results did not survive adjustments for multiple comparisons, some interesting trends appeared, which require further investigation in a multicenter national audit. Patients with more neurologically severe presentations during childhood may continue to experience seizures. Careful monitoring and screening are needed during adulthood, to detect changes and newly developing symptoms such as NES, and target treatment promptly.

Update on the diagnosis and treatment of choroidal hemangioma.

Choroidal hemangioma (CH) is a benign vascular tumor dependent on the choroid. Two types of lesions are distinguished: circumscribed (CCH), the most frequent variant, and diffuse (DCH), normally associated with Sturge-Weber syndrome. HCC appears as an orange mass that can present asymptomatically, however, when it produces symptoms, the most frequent is decreased visual acuity due to neurosensory retinal detachment. Due to its benign nature, only those that produce symptoms should be eligible for treatment. Knowledge of this pathology and its correct differential diagnosis is very relevant to establish the appropriate diagnosis and treatment, avoiding unnecessary treatments. There is currently a wide variety of multimodal diagnostic imaging tests that allow us to identify and adequately monitor this tumor. In addition, in recent years, there has been a change in the paradigm of the treatment of these tumors thanks to the use of photodinamic therapy, which has led to a significant improvement in the visual prognosis of these patients. This has been due to the use of photodynamic therapy as the treatment of choice for HCC.

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.

Sturge-Weber syndrome and variability of clinical presentation.

INTRODUCTION: Sturge-Weber syndrome (SWS) is a congenital syndrome characterised by intellectual disability, glaucoma, a characteristic port-wine stain on the skin around the route of the ophthalmic branch of the trigeminal nerve and the affection of the leptomeninges in the brain in the form of abnormal capillary venous vessels. The aim of this study is to look at the clinical features as well as the correlation of SWS with other comorbidities in hospitalised children. MATERIALS AND METHODS: Records of admitted children over the period 2000-2019 were retrospectively studied. Epidemiological variables, gender and age at the time of diagnosis, changes in the skin, central nervous system affection and ophthalmological changes were analysed and recorded. RESULTS: Eleven cases of SWS were identified and included in the study. Age at the time of diagnosis ranged from 1 to 36 months. EEG showed specific grapho-elements, with partial seizures presenting in five cases out eight total cases with epilepsy. Ophthalmological complications were common, with glaucoma and choroidal haemangioma being the most common. Cognitive problems were found in seven cases, headache in eight cases and hemiparesis in four. CONCLUSION: SWS is associated with other medical conditions. The study has described some of the features of SWS and found its correlation with epilepsy and other neurological problems, glaucoma, headache, hemiparesis and cognitive problems.

Proper Therapy Selection Improves Epilepsy Outcomes in Patients With Multilobar Sturge-Weber Syndrome.

BACKGROUND: Hemispherectomy is an optimal treatment for patients with Sturge-Weber syndrome (SWS) affecting the whole hemisphere; however, a consensus has not been reached regarding therapeutic choices for those with involvement of two to three lobes. In this study, we compared seizure and cognitive outcomes between medical and surgical treatment groups in patients with multilobar involvement. METHODS: We evaluated 50 patients with multilobar involvement. Surgical indications included (1) antiepileptic drug (AED)-resistant seizures; (2) developmental delay; and (3) cortical atrophy. Twenty-nine patients were classified in the medical treatment group (MTG), and 21 patients were in the surgical treatment group (STG). Seizure type and frequency, SWS electroencephalography score (SWS-EEGS), and pretherapeutic and posttherapeutic SWS neurological scores (SWS-NS) were compared between groups. Median ages at the initial evaluation of the MTG and STG were 4 and 2 years, and at the final evaluation were 13 and 17 years, respectively. RESULTS: The STG had a higher incidence (76.2%) of focal to bilateral tonic-clonic seizures and status epilepticus, although no difference in SWS-EEGS. Seizure and cognitive subcategories of SWS-NS at initial evaluation were worse in the STG (P = 0.025 and P = 0.007). The seizure subcategory in MTG and STG improved after therapy (P = 0.002 and P = 0.001). Cognition was maintained in MTG and improved in STG (P = 0.002). The seizure-free rates in MTG and STG were 58.6% and 85.7%, respectively. CONCLUSIONS: Appropriate therapeutic choices improved seizure outcomes. Although patients who required surgery had more severe epilepsy and cognitive impairment, surgery improved both.

Seizure outcomes in children with Sturge-Weber syndrome undergoing epilepsy surgery: An individual participant data meta-analysis.

BACKGROUND: A subpopulation of patients with Sturge-Weber syndrome (SWS) develop medically intractable epilepsy. There is a paucity of literature on preoperative factors that predict postoperative seizure outcomes in these patients. An individual participant data meta-analysis (IPDMA) was performed to discern preoperative variables associated with favorable seizure outcomes in pediatric SWS patients undergoing epilepsy surgery. METHODS: PubMed, Cochrane, Web of Science, and Scopus were independently queried following PRISMA guidelines. Studies that reported seizure outcomes in individual pediatric SWS patients were selected. Preoperative demographic variables and disease characteristics were recorded and evaluated in a time-to-event fashion via Cox regression and Kaplan-Meier analysis with log-rank test. RESULTS: A total of 18 studies with 108 patients were included for meta-analysis. Median age at seizure onset was 4.5 months, and 85 patients (78.7%) were seizure-free at last follow-up (median: 72 months). On multivariable Cox regression, no variables were independent predictors of post-operative seizure freedom duration, including the extent of hemispheric resection. There were also no differences in time-to-seizure recurrence on Kaplan-Meier analysis when comparing those treated with hemispheric surgery and those with less than hemispheric surgery (p = 0.52). CONCLUSION: This IPDMA showed that both resective and hemispheric epilepsy surgery achieve favorable and comparable seizure outcomes in pediatric SWS patients. The best available evidence using IPD suggests that resective surgery may be an appropriate alternative to hemispheric epilepsy surgery in well-selected patients. Prospective multi-institutional studies with greater follow-up are warranted to further investigate predictors of seizure outcome in pediatric SWS patients.

Current situation and influencing factors of disease uncertainty in parents of children with Sturge‒Weber syndrome: a retrospective study.

BACKGROUND: Sturge Weber syndrome (SWS), can cause extensive capillary malformations on the face, head, trunk, and other parts of the body, and the eyes can also suffer optic nerve injury. Secondary glaucoma can cause blindness, which has the characteristics of a relatively hidden onset and unclear pathogenesis. The treatment of SWS secondary glaucoma has always been difficult, and due to the characteristics of the disease, there is uncertainty about the long-term efficacy and safety of various treatment methods for such patients. METHODS: A total of 105 parents of children with SWS completed a self-designed general information questionnaire, a generalized anxiety questionnaire (GAD-7), a patient health questionnaire (PHQ-2), a stress perception scale (PSS-4), a simple coping scale (SCSQ) and a disease-uncertainty scale (PPUS). RESULTS: The total uncertainty score of parents of children with SWS was 79.07 ± 13.24, and the average item score was 2.82 ± 0.47. Multiple linear regression analysis revealed that anxiety and simple coping were the main influencing factors of disease uncertainty among parents of children with SWS (P < 0.05). CONCLUSIONS: Parents of children with SWS exhibit a high level of disease uncertainty. Medical staff should pay attention to the source of parents' disease uncertainty and provide targeted interventions, which are of great importance in reducing parents' disease uncertainty.

Clinicopathological Analysis of Sturge-Weber Syndrome with Focal Cortical Dysplasia FCD IIIc.

Objective: To investigate the clinicopathological features of children with Sturge-Weber syndrome and to analyze the correlation between the distribution area of leptomeningeal angiomatosis, the degree of cerebral cortical calcification, and the degree of cerebral atrophy associated with epileptic seizures. Methods: 10 children were diagnosed with SWS with FCD IIIc by histopathology and immunohistochemistry. Spearman correlation analysis was used to calculate the association of SWS with FCD IIIc and seizures in children. Results: The leptomeningeal angiomatosis area was markedly positively correlated with the degree of brain atrophy in 10 children with SWS (r = 0.783, p = 0.007). The distribution of leptomeningeal hemangiomatosis, the degree of cortical calcification, and brain atrophy were not significantly correlated with epilepsy. Conclusion: SWS may be accompanied by FCD IIIc. The more extensive the cerebral lobes of leptomeningeal angiomatosis in SWS, the more pronounced the brain atrophy.

Topical netarsudil for treatment of glaucoma with elevated episcleral venous pressure: A pilot investigation in sturge-weber syndrome.

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, p = 0.0283) and latest IOP on netarsudil (mean 17.6 ± 1.4 mmHg, p = 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.