Tuberous sclerosis complex: Clinical spectrum and epilepsy: A retrospective chart review study

Almobarak, Sulaiman; Al–Muhaizea, Mohammad A.; Abukhaled, Musaad; Alyamani, Suad; Dabbagh, Omar; Chedrawi, Aziza; Khan, Sameena; Aldhalaan, Hesham

doi:10.1515/tnsci-2018-0023

Cited by 13 publications

(19 citation statements)

References 29 publications

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“…Our patient with AML was 9 years old. Although the incidence rate in the literature was different, the frequency of AML in our study was lower [10,11] . Chromosomal studies in TSC identified two genes.…”

Section: Discussioncontrasting

confidence: 73%

“…In our study, 9 (56.2%) out of 16 patients presented with convulsions. The prevalence of seizure as one of the initial TSC manifestations was lower than those recently reported from the studies published by Almoberak et al, [10] Wilbur et al, [4] Sing Au et al, [7] and İncecik et al [8] at 68.2%, 91%, 74.8%, and 89.1%, respectively. Similar results were found in the studies by Saltuk et al [11] at 42.8% and Rubilar et al [12] at 48.7%.…”

Section: Discussioncontrasting

confidence: 55%

“…The most common findings on MRI are shown in Table 2. [8] et al [14] et al [10] et al [11] et al [12] et al [13] Hypopigmented skin lesions (%) 100…”

Section: Resultsmentioning

confidence: 99%

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Retrospective radiological and clinical of assessment 16 patients with Tuberous sclerosis

Güngör¹

2019

Haydarpasa Numune Med J

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Introduction: Tuberous sclerosis (TSC) is a multisystem, autosomal dominant disorder with a wide clinical spectrum. The aim of the present study was to review the clinical, radiological, and laboratory findings of our TSC cases in a retrospective manner and to compare them with the current literature. Methods: The clinical and radiological features of 16 patients diagnosed with TSC at Sütçü İmam University, Faculty of Medicine, Pediatric Neurology Outpatient Clinic were retrospectively assessed. Results: A total of 16 patients with a diagnosis of TSC were included in the study. The study included 9 (56.2%) male and 7 (43.7%) female patients. Of the 16 patients, 9 (56.2%) presented with convulsions, 4 (25%) with body rash, 2 (12.5%) with cardiac rhabdomyoma diagnosed at the newborn period, and 1 (6.25%) with perinatal asphyxia. Hypopigmented skin lesions were detected in all patients (100%). The most common finding on brain magnetic resonance imaging (MRI) was periventricular subependymal nodules (SNs) (n=12, 75%). In addition to the central nervous system and skin findings, 3 (18.7%) patients had cardiac involvement, and 1 (6.2%) patient had renal involvement. Three (18.7%) patients were detected with diffuse developmental delay, and 6 (37.5%) patients were detected with mental retardation. Discussion and Conclusion: In line with the current literature, convulsions, hypopigmented skin lesions, mental retardation, and SNs on brain MRI were the most common signs.

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Section: Discussioncontrasting

confidence: 73%

Section: Discussioncontrasting

confidence: 55%

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Retrospective radiological and clinical of assessment 16 patients with Tuberous sclerosis

Güngör¹

2019

Haydarpasa Numune Med J

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“…As noted previously, TSC is highly variable in its clinical presentation and symptoms can develop and change throughout life. Since milder cases may potentially go undetected, the incidence of TSC may be underestimated [25].…”

Section: Discussionmentioning

confidence: 99%

Epidemiology, healthcare resource use, and mortality in patients with tuberous sclerosis complex: A population-based study on German health insurance data

Strzelczyk

Rosenow

Zöllner

et al. 2021

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10-year retrospective study to assess burden of illness in individuals with tuberous sclerosis complex (TSC) identified from German healthcare data. Methods: Patients with TSC were identified by International Classification of Diseases code Q85.1. Patients with epilepsy were identified by epilepsy diagnosis or antiseizure medication (ASM) prescription after TSC diagnosis. Results: Using data from 2016 (final study year), 100 patients with TSC were identified (mean [range] age: 38 [1-86] years; male: 40%); prevalence: 7.9 per 100,000 (TSC), 2.2 per 100,000 (TSC with epilepsy). During the 10-year study period (2007)(2008)(2009)(2010)(2011)(2012)(2013)(2014)(2015)(2016), 256 patients with TSC were identified and followed up for 1,784 patientyears (epilepsy: 36%, 616 patient-years). TSC manifestations/comorbidities (apart from epilepsy) were identified more frequently in patients with epilepsy than without. Mean annual healthcare costs for patients with TSC were €6,139 per patient-year (PPY), mostly attributable to medication (35%) and inpatient care (29%). Patients with epilepsy incurred costs more than double those without. Mean (standard deviation [SD]) annual hospitalisation rate (AHR) and length of stay (LOS) PPY: 0.5 (1.0) and 5.9 (18.6) days for TSC. AHR and LOS were greater in patients with epilepsy than without. Mean (SD) number of ASMs prescribed (TSC with epilepsy): 3.0 (2.3) over the entire observable time per patient. Mortality rates (vs. control): 5.08% (vs. 1.69%, p<0.001) for TSC, 7.53% (vs. 0.98%, p<0.001) for TSC with epilepsy, 3.68% (vs. 2.03%, p = 0.003) for TSC without epilepsy. Conclusion: Healthcare costs, resource utilisation, and mortality were greater in patients with TSC and epilepsy than those without epilepsy.

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“…Although infantile spasms are common, all types of seizures may occur with advancing age(11). The frequency of epilepsy in patients with TSC has been reported as being 53-85% in different studies(10,(12)(13)(14). riod and increase with age, causing hypertension, hematuria or renal failure(16,17).Kingswood et al (17) investigated 2216 patients registered to the TuberOus SClerosis registry to increase disease Awareness (TOSCA) and found renal angiomyolipoma (AML) in 51.8% of 2065 patients who had renal imaging.…”

mentioning

confidence: 99%

Clinical and molecular spectrum of tuberous sclerosis complex patients: identification of three novel mutations

Işık¹

2020

Erciyes Med J

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Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome. TSC arises from mutations in either TSC1, at 9q34, or TSC2, at 16p13.3. Skin lesions, such as hypomelanotic macules, facial angiofibromas, shagreen patches, and ungual fibromas, are frequently seen in these patients. The present study aims to investigate clinical manifestations, molecular findings and phenotype-genotype correlations in 17 patients with TSC.Materials and Methods: TSC1 and TSC2 molecular analyses were performed on a next-generation sequencing platform (Illumina MiSeq). Variant interpretation was made in accordance with the American College of Medical Genetics 2015 recommendations.Results: Four patients carried a heterozygous mutation in TSC1, while the remaining seven carried mutations in TSC2. Three novel variants in TSC2 were defined. Sequencing failed to detect a mutation in six patients. In only one of these patients, multiplex ligation-dependent probe amplification (MLPA ® ) could be performed, and a large deletion in the TSC1 gene was detected. A wide spectrum of phenotypic features was noted throughout the study group. Dermatological findings were observed in almost all patients. Conclusion:In this study, in addition to the three novel mutations reported herein, the spectrum of TSC1 and TSC2 gene mutations and their phenotypes were reported.

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Tuberous sclerosis complex: Clinical spectrum and epilepsy: A retrospective chart review study

Cited by 13 publications

References 29 publications

Retrospective radiological and clinical of assessment 16 patients with Tuberous sclerosis

Retrospective radiological and clinical of assessment 16 patients with Tuberous sclerosis

Epidemiology, healthcare resource use, and mortality in patients with tuberous sclerosis complex: A population-based study on German health insurance data

Clinical and molecular spectrum of tuberous sclerosis complex patients: identification of three novel mutations

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