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Pediatric Neurology Feb 2023A prior drug trial of cannabidiol for treatment-resistant epilepsy in patients with Sturge-Weber syndrome (SWS), a rare neurovascular condition, implicated improvements... (Clinical Trial)
Clinical Trial
BACKGROUND
A prior drug trial of cannabidiol for treatment-resistant epilepsy in patients with Sturge-Weber syndrome (SWS), a rare neurovascular condition, implicated improvements in neurological, quality of life (QOL), neuropsychologic, psychiatric, and motor outcomes.
METHODS
Ten subjects with SWS brain involvement, controlled seizures, and cognitive impairments received study drug in this Johns Hopkins institutional review board-approved, open-label, prospective drug trial. Oral cannabidiol was taken for six months (dose ranged from 5 to 20 mg/kg/day). SWS neuroscore, port-wine birthmark score, QOL, and adverse events were recorded every four to 12 weeks. Neuropsychologic, psychiatric, and motor assessments were administered at baseline and six months' follow-up. Most evaluations were conducted virtually due to the coronavirus disease 2019 pandemic.
RESULTS
Cannabidiol was generally well tolerated. Six subjects reported mild to moderate side effects related to study drug and continued on drug; one subject withdrew early due to moderate side effects. No seizures were reported. Significant improvements in SWS neuroscore, patient-reported QOL, anxiety and emotional regulation, and report of bimanual ability use were noted. Migraine QOL scores were high at baseline in these subjects, and remained high. Neuropsychologic and other QOL and motor outcomes remained stable, with some within-subject improvements noted.
CONCLUSIONS
Further studies are needed to determine whether Epidiolex can improve quality of life and be beneficial for neurological, anxiety, and motor impairments in SWS independent of seizure control. Large multicentered studies are needed to extend these preliminary findings.
Topics: Humans; Cannabidiol; Cognition; COVID-19; Quality of Life; Sturge-Weber Syndrome
PubMed: 36508880
DOI: 10.1016/j.pediatrneurol.2022.10.014 -
JNMA; Journal of the Nepal Medical... Nov 2023Sturge-Weber syndrome is a rare congenital neurocutaneous syndrome with an incidence of 1 in 50000 characterised by facial capillary malformation and vascular anomalies...
UNLABELLED
Sturge-Weber syndrome is a rare congenital neurocutaneous syndrome with an incidence of 1 in 50000 characterised by facial capillary malformation and vascular anomalies in the brain and eye. We present the case of a five-year-old child diagnosed with Sturge-Weber syndrome. The patient exhibited high-grade fever, headaches, and generalized tonic-clonic seizures. The history revealed a port-wine stain on the face and a history of seizures from the age of four months. Diagnostic imaging confirmed the presence of leptomeningeal vascular malformation, calcification in the brain, and abnormal electroencephalogram patterns, establishing the diagnosis of Sturge-Weber syndrome. Treatment with antiepileptic drugs led to seizure control. This case underscores the importance of early diagnosis and tailored treatment strategies for patients with Sturge-Weber syndrome.
KEYWORDS
brain; case reports; port-wine stain; seizures; Sturge-Weber syndrome.
Topics: Child, Preschool; Humans; Anticonvulsants; Brain; Port-Wine Stain; Seizures; Sturge-Weber Syndrome
PubMed: 38289732
DOI: 10.31729/jnma.8344 -
Lasers in Surgery and Medicine Jan 2021There is limited or no data on the experience of patients with Sturge-Weber Syndrome (SWS) and/or their parents who seek out laser treatments for their port-wine...
BACKGROUND AND OBJECTIVES
There is limited or no data on the experience of patients with Sturge-Weber Syndrome (SWS) and/or their parents who seek out laser treatments for their port-wine birthmark (PWB). Our study aimed to develop a survey to understand patient perspectives on laser therapy and subsequent behaviors while focusing on three elements of the health belief model: perceived susceptibility, perceived benefits, and perceived barriers.
STUDY DESIGN/MATERIALS AND METHODS
A 31 item survey was developed and sent to 650 members of the Sturge-Weber Foundation. The survey included questions regarding four domains: demographics, disease severity, laser experience, and perceptions and behaviors. Logistic regression models and bivariate analyses were conducted to analyze the results.
RESULTS
Among the 123 respondents, earlier initiation of laser treatments was associated with greater birthmark satisfaction. Overall satisfaction increased up to 20 treatments and then leveled off. Color satisfaction increased up to 100 laser treatments; however, the flatness of the PWB was not associated with the number of laser treatments. The perceived benefits of lasers were not associated with the number of lifetime treatments or with spending. However, the perceived susceptibility was associated with greater spending on travel and medical expenses.
CONCLUSION
The results of our survey provide insight into SWS patient experiences, beliefs, and behaviors regarding laser therapy. Further exploration of these variables may allow for the improvement of the care experience. Lasers Surg. Med. © 2020 Wiley Periodicals LLC.
Topics: Humans; Lasers; Port-Wine Stain; Severity of Illness Index; Sturge-Weber Syndrome; Surveys and Questionnaires
PubMed: 32960979
DOI: 10.1002/lsm.23321 -
Journal of Neurology Jul 2021The pioneer neuropathologist Vicente Dimitri (1885-1955) was professor and chairman of neurology at the Medical School of the University of Buenos Aires. He founded the...
The pioneer neuropathologist Vicente Dimitri (1885-1955) was professor and chairman of neurology at the Medical School of the University of Buenos Aires. He founded the Revista Neurológica de Buenos Aires, the first Spanish-language journal of neurology (currently, Neurología Argentina), and is eponymously remembered in 'Sturge-Weber-Dimitri syndrome' or encephalotrigeminal angiomatosis.
Topics: Argentina; Humans; Male; Neurology; Sturge-Weber Syndrome
PubMed: 32844308
DOI: 10.1007/s00415-020-10176-z -
QJM : Monthly Journal of the... Dec 2019
Topics: Arteriovenous Malformations; Computed Tomography Angiography; Humans; Male; Sturge-Weber Syndrome
PubMed: 31086946
DOI: 10.1093/qjmed/hcz101 -
Frontiers in Human Neuroscience 2023
PubMed: 37351364
DOI: 10.3389/fnhum.2023.1212184 -
Cureus Sep 2022Sturge-Weber syndrome (SWS) is a rare sporadic neurocutaneous syndrome characterized by angiomas involving the face, eyes, and brain (leptomeninges). Classical port-wine...
Sturge-Weber syndrome (SWS) is a rare sporadic neurocutaneous syndrome characterized by angiomas involving the face, eyes, and brain (leptomeninges). Classical port-wine stains are seen in the ophthalmic and maxillary division of the trigeminal nerve. The most common presenting feature is seizures, the onset of which ranges from birth to late adulthood. Diagnosis is mainly done by brain radio imaging (CT scan and MRI with gadolinium contrast) where characteristic features of calcification and leptomeningeal enhancement are seen. We report a newly diagnosed case of SWS in a 31-year-old female patient who presented to our hospital with a complaint of generalized tonic-clonic (GTCS) type of convulsion two days prior to the admission with purple discoloration of the skin on the right side of the face, trunk, and right upper limb since birth. During the evaluation of past medical history, the patient was found to have a known case of epilepsy since the age of three months and on was on irregular treatment. To find out the cause of the seizure and skin lesions, further investigations were done which were suggestive of SWS in MRI and CT scanning of the brain. The patient was counseled about the syndrome and discharged on anti-convulsion treatment with advice for dye laser photocoagulation for port-wine stain. SWS is a rare sporadic genetic disease and diagnosis is primarily done by evaluating history, the presence of port-wine stain, and characteristic features on brain radio imaging. As no definitive treatment is available yet, patients are being treated by medical and surgical interventions for symptoms as well as for associated complications.
PubMed: 36225423
DOI: 10.7759/cureus.28786 -
European Journal of Paediatric... Sep 2021This study of children with Sturge-Weber syndrome (SWS) profiled neurological presentations; compared patients with (+) and without (-) port-wine stain (PWS); and...
INTRODUCTION
This study of children with Sturge-Weber syndrome (SWS) profiled neurological presentations; compared patients with (+) and without (-) port-wine stain (PWS); and determined risk factors for intellectual and language impairments.
METHODS
A retrospective case note review was conducted at a national centre.
RESULTS
This cohort (n = 140, male 72, median follow up 114 months) showed sex parity. Intellectual disability ("ID": IQ ≤ 70) affected half (66), being severe (IQ ≤ 40) in two-fifths (27) with ID. Language disorder (core score≤70) affected half (57). Neurological presentations were: status epilepticus 57% (80), hemiplegia 58% (81), headaches 36% (50) and acutely acquired neurological deficits lasting over 24 h 40% (56). One-seventh (20) were PWS(-). This group had: fewer lobes with angioma (p < 0.0001); and less frequent ID (p = 0.002) or language disorder (p = 0.013). Seizure frequency and status epilepticus prevalence did not differ from PWS(+). ID and language disorder were associated with: more lobes with angioma; earlier seizure onset; more frequent status epilepticus and seizure clusters. On multivariable analysis recurrent status epilepticus (p = 0.037) and multi-lobe involvement (p = 0.002) increased the risk of severe intellectual disability. Active epilepsy was associated with language disorder (p = 0.030).
CONCLUSIONS
This is the largest reported series documenting detailed developmental profiles of children with SWS, including ID and ASD. PWS(+) shows high rates of ID and language disorder. PWS(-) SWS has a more favourable outcome. Cognitive outcome is contingent on number of affected lobes and bilateral involvement. Epilepsy exerts an additional deleterious effect on language and cognition. A high percentage of children have a history of status epilepticus, with evidence that this impacts language and cognitive outcomes. Acutely acquired neurological deficits did not penalise either. Regular structured clinical and developmental assessment permit greater identification of neurological and neurodevelopmental impairments in SWS, and appropriate support.
Topics: Child; Cognition; Epilepsy; Humans; Male; Port-Wine Stain; Retrospective Studies; Sturge-Weber Syndrome
PubMed: 34293629
DOI: 10.1016/j.ejpn.2021.07.005 -
Journal of Autism and Developmental... May 2022A systematic retrospective case note review was undertaken to investigate autism diagnostic factors in 124 individuals with Sturge-Weber syndrome (SWS). Social...
A systematic retrospective case note review was undertaken to investigate autism diagnostic factors in 124 individuals with Sturge-Weber syndrome (SWS). Social Responsiveness Scale questionnaires were then analysed to explore the severity and profile of autism characteristics in 70 participants. Thirty-two to forty percent of participants had a clinical diagnosis of autism and half of those without a diagnosis showed significant social communication difficulties. Children had a relative strength in social awareness and social motivation, which are typically much reduced in people with autism. This finding may explain why, to date, the diagnosis has often been overlooked in this population. The research therefore suggests that children with Sturge-Weber should be screened to identify social communications difficulties and provided with timely support.
Topics: Autism Spectrum Disorder; Autistic Disorder; Child; Humans; Prevalence; Retrospective Studies; Sturge-Weber Syndrome
PubMed: 34043129
DOI: 10.1007/s10803-021-05062-0 -
Orphanet Journal of Rare Diseases Sep 2023Somatic mutations of cancer driver genes are found to be responsible for vascular malformations with clinical manifestations ranging from cutaneous birthmarks to...
BACKGROUND
Somatic mutations of cancer driver genes are found to be responsible for vascular malformations with clinical manifestations ranging from cutaneous birthmarks to life-threatening systemic anomalies. Till now, only a limited number of cases and mutations were reported in Chinese population. The purpose of this study was to describe the somatic mutation spectrum of a cohort of Chinese pediatrics with vascular malformations.
METHODS
Pediatrics diagnosed with various vascular malformations were collected between May 2019 and October 2020 from Beijing Children's Hospital. Genomic DNA of skin lesion of each patient was extracted and sequenced by whole-exome sequencing to identify pathogenic somatic mutations. Mutations with variant allele frequency less than 5% were validated by ultra-deep sequencing.
RESULTS
A total of 67 pediatrics (33 males, 34 females, age range: 0.1-14.8 years) were analyzed. Exome sequencing identified somatic mutations of corresponding genes in 53 patients, yielding a molecular diagnosis rate of 79.1%. Among 29 PIK3CA mutations, 17 were well-known hotspot p.E542K, p.E545K and p.H1047R/L. Non-hotspot mutations were prevalent in patients with PIK3CA-related overgrowth spectrum, accounting for 50.0% (11/22) of detected mutations. The hotspot GNAQ p.R183Q and TEK p.L914F mutations were responsible for the majority of port-wine stain/Sturge-Weber syndrome and venous malformation, respectively. In addition, we identified a novel AKT1 p.Q79K mutation in Proteus syndrome and MAP3K3 p.E387D mutation in verrucous venous malformation.
CONCLUSIONS
The somatic mutation spectrum of vascular malformations in Chinese population is similar to that reported in other populations, but non-hotspot PIK3CA mutations may also be prevalent. Molecular diagnosis may help the clinical diagnosis, treatment and management of these pediatric patients with vascular malformations.
Topics: Adolescent; Child; Child, Preschool; Female; Humans; Infant; Male; Class I Phosphatidylinositol 3-Kinases; East Asian People; Hemangioma; Mutation; Vascular Malformations
PubMed: 37658401
DOI: 10.1186/s13023-023-02860-w