Prevention of epilepsy in humans – truth or myth? The experience from Sturge-Weber syndrome and Tuberous Sclerosis Complex

Słowińska, Monika; Golec, Weronika; Jóźwiak, Sergiusz

doi:10.5603/pjnns.a2019.0022

Cited by 3 publications

(8 citation statements)

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“…They present with seizures (75-90%), slow progressive hemiparesis (25-60%), infantile spasm, mental retardation, migraine like vascular headaches (30 -40%), delayed milestones (50-60%), behavioral or social problems and visual fi eld defects. 2,3,5,7 Cutaneous features: the classic picture is that of PW stain which is asymmetrically located on the face and may be unilateral or bilateral. They are mostly seen at birth and needs to be differentiated from salmon patches-nevus simplex.…”

Section: Discussionmentioning

confidence: 99%

“…PW may lead to local facial tissue hypertrophy, hemi atrophy of the face, bone or maxillary overgrowth, jaw malocclusion or formation of nodules. 5,9 Ocular features:dilated vessels that involve the choroid, retina, or conjunctiva are the hall mark of SWS. This can lead to glaucoma, optic atrophy or even blindness.…”

Section: Discussionmentioning

confidence: 99%

“…It has been classically described by the Roach scale into three types(Table 1). 5 SWS may manifest with cutaneous, neurological, endocrine or ocular manifestations. An interesting case of SWS is reported with the classical fi ndings.…”

Section: Sturge Weber Syndromementioning

confidence: 99%

“…turge-weber syndrome (SWS) is a type of neurocutaneous syndrome/ neurooculo cutaneous/ phakomatoses that is characterized by facial capillary Port Wine stain, leptomeningealangioma and glaucoma with a incidence of 1 per 20-50,000 live births. 4,5 Somatic mutation in the GNAQ gene located on chromosome 9 affects the G proteins that act as modulators/translators in transmembrane signaling systems and is found in 80% of cases with SWS and the dysregulation of vascular MAPK and/or PI3K signaling…”

mentioning

confidence: 99%

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Sturge Weber syndrome

Roka

2019

Nep J Neurosci

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Sturge-weber syndrome is a type of neurocutaneous syndrome/ neurooculo cutaneous/ phakomatoses that is characterized by facial capillary Port Wine stain, leptomeningealangioma and glaucoma with a incidence of 1 per 20-50,000 live births. A case is reported that presented to the outpatient clinic with discharging wound over the left side of his head for a week. On examination he had a large left facial PW stain involving all the divisions of the Trigeminal nerve. Further examination revealed he had history of partial seizures since last 10 years with incomplete and irregular treatment. He also had right sided hemiatrophy of the limbs along with medial gaze deviation of the left eyeball. Skull skiagram was done outside which revealed calcifications in his left hemisphere and CT was then advised for his headache and seizure that revealed Left hemispheric Tram track calcifications along with cerebral atrophy and loss of cortical volume. EEG was unremarkable. He was managed with antibiotics for the scalp wound and discharged with Leveteracetam 1000 mg daily dose and asked to attend eye hospital for the reduced vision. With the PW stain, skin nodules, eye findings and the radiological features he was diagnosed as SWS and counseled for regular follow up, use of anti-epileptic medications, probable side effects and surgery for eye abnormalities.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Sturge Weber Syndromementioning

confidence: 99%

mentioning

confidence: 99%

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Sturge Weber syndrome

Roka

2019

Nep J Neurosci

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“…The recent reports on the possibility of preventing epilepsy in patients with TSC seem to be groundbreaking. Increased awareness of TSC symptoms, together with significant progress in early diagnosis, allows for implementation of regular [51,52]. In the study by Jóźwiak et al, the initiation of VGB treatment (100-150 mg/kg/day) at the presence of subclinical epileptiform EEG before the onset of clinical seizures was associated at the 24 th month of life with a lower percentage of epilepsy (43% vs. 71%), a lower incidence of drug-resistant epilepsy, and a lower rate of intellectual disability (48% vs. 14%) compared to the group of patients treated conventionally after the onset of clinical seizures [45].…”

Section: Vgb In Patients With Tscmentioning

confidence: 99%

Vigabatrin — new data on indications and safety in paediatric epilepsy

Golec

Sołowiej

Strzelecka

et al. 2021

Neurol Neurochir Pol.

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Vigabatrin (VGB), a second-generation antiepileptic drug, is effective for the treatment of infantile spasms and focal seizures, primarily in tuberous sclerosis complex (TSC) patients. However, reports of adverse events of VGB, including VGB-associated visual field loss and brain abnormalities in neuroimaging, have raised concerns about the broader use of VGB and thus significantly limited its application.The goal of this review was to summarise the recent therapeutic guidelines, the use of VGB in focal seizures and new VGB applications as a disease-modifying treatment in TSC patients. Moreover, we discuss the current opinions on potential VGB-associated toxicity and the safety of VGB.

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Risk Factors Associated with Refractory Epilepsy in Patients with Tuberous Sclerosis Complex: A Systematic Review

Śmiałek

Sugalska

Jóźwiak

2021

JCM

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Background: Epilepsy affects 70–90% of patients with tuberous sclerosis complex (TSC). In one-third of them, the seizures become refractory to treatment. Drug-resistant epilepsy (DRE) carries a significant educational, social, cognitive, and economic burden. Therefore, determining risk factors that increase the odds of refractory seizures is needed. We reviewed current data on risk factors associated with DRE in patients with tuberous sclerosis. Methods: The review was performed according to the PRISMA guidelines. Embase, Cochrane Library, MEDLINE, and ClinicalTrial.gov databases were searched. Only full-text journal articles on patients with TSC which defined risk factors related to DRE were included. Results: Twenty articles were identified, with a cohort size between 6 and 1546. Seven studies were prospective. Three factors appear to significantly increase DRE risk: TSC2 mutation, infantile spasms, and a high number of cortical tubers. Conclusions: A proper MRI and EEG monitoring, along with genetic testing, and close observation of individuals with early onset of seizures, allow identification of the patients at risk of DRE.

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Prevention of epilepsy in humans – truth or myth? The experience from Sturge-Weber syndrome and Tuberous Sclerosis Complex

Cited by 3 publications

References 0 publications

Sturge Weber syndrome

Sturge Weber syndrome

Vigabatrin — new data on indications and safety in paediatric epilepsy

Risk Factors Associated with Refractory Epilepsy in Patients with Tuberous Sclerosis Complex: A Systematic Review

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