Manifestations of Tuberous Sclerosis Complex: The Experience of a Provincial Clinic

Wilbur, Colin; Sanguansermsri, Chinnuwat; Chable, H; Anghelina, Mihaela; Peinhof, Sharon; Anderson, Kelly K.; Steinbok, Paul; Singhal, Ash; Datta, Anita; Connolly, Mary

doi:10.1017/cjn.2016.311

Cited by 19 publications

(33 citation statements)

References 53 publications

(84 reference statements)

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“…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%

“…In our study, 2 (12.5%) patients had these patches. Rubilar et al, [12] Wilbur et al, [4] and Sing Au et al [7] found the frequency of adenoma sebaceum to be 47.6%, 43%, and 60.1%, respectively. Since the number of cases in our study is low, we think that the frequency of adenoma sebaceum is lower than that in the previous studies.…”

Section: Discussionmentioning

confidence: 99%

“…The most notable features of the disorder are glial-neuronal and retinal hamartomas, subependymal giant cell tumors (GCTs), cardiac rhabdomyomas, renal and non-renal angiomyolipomas (AMLs), and pulmonary lymphangioleiomyomatosis [3] . Clinically, its course is characterized by resistant epilepsy, mental retardation, behavioral problems, and skin lesions [4] . The aim of the present study was to review the clinical and radiological findings of our TSC cases and to compare them with the current literature.…”

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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: 55%

Section: Discussionmentioning

confidence: 99%

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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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“…Based on the Quality in Prognosis Strategy (QUIPS) tool, the most commonly found risk factors for bias in the studies reviewed included study participation, ASD measure, and study confounders. Many [14] of the reviewed articles included participants drawn from one clinic or hospital (18,(20)(21)(22)(23)(24)(25)(26)(27)(28)(29)(30)(31)(32); others [5] had a specific age range (12,13,(33)(34)(35) or a particular subset of the TSC population (18, 35-47, 49, 50). Only 18 of the included articles reported the diagnostic criteria for ASD ( Table 1).…”

Section: Search Strategy and Article Selectionmentioning

confidence: 99%

“…Deficits across all domains of the Bayley Scales of Infant Development (BSDI) at 1 year of age were predictive of higher autism traits on the Autism Diagnostic Observation Schedule (ADOS) at 2 years within a prospective study of infants with TSC (n = 82) in 10 sites across Europe and Australia (34). ID is often more common in TSC patients with ASD than those with TSC alone (31). Behavioral problems have been reported to be exacerbated by seizure frequency and a mixed seizure profile (24).…”

Section: Phenotype/behaviormentioning

confidence: 99%

Autism and Epilepsy in Patients With Tuberous Sclerosis Complex

et al. 2020

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Introduction: Individuals with Tuberous Sclerosis Complex (TSC) are at increased risk of developing both epilepsy and autism spectrum disorder (ASD), but the relationship between these conditions is little understood. We reviewed published reports to elucidate the relationship between ASD, epilepsy, and TSC, and to define the genetic and neurological risk factors. Methods: Articles (January 2004-May 2019) were identified via PubMed, EMBASE, and CENTRAL databases. Article inclusion required report on individuals with TSC-associated ASD and epilepsy with prevalence, odds ratio, or rate report on the comorbidity of ASD in epileptic patients due to TSC. Results: A total of 841 abstracts were identified in the original search. Thirty-six articles were included, which identified study populations, ASD measures used, and study confounders as bias factors. This review included 2,666 TSC patients, with a mean age of 15.9 years (range 1.94-30.3 years). The percentage of TSC patients with epilepsy and autism was 33.7%. Patients with TSC and autism showed more frequent seizures and earlier epilepsy onset than TSC patients without autism. ASD and intractable epilepsy were both predicted by a higher number of areas with dysplastic features revealed in brain MR scans. ASD, the onset of seizures in children <2 years of age, and >3 tubers have all been associated with an increased risk of refractory epilepsy in TSC patients. However, the direction of the relationship is not clear because a history of epilepsy, or infantile spasms in patients with TSC is also associated with an increased likelihood of ASD. Overall, 73.2% of patients carried TSC2 genetic variant and, among patients with TSC and autism, the percentage of TSC2 individuals was 85.6%. Conclusions: The complex interrelationship between TSC, autism, and epilepsy, coupled with limited knowledge on the neurobiological basis for the interrelationship, limits overall understanding and opportunities for management. The results of this review highlight the need for early identification and management to optimize favorable outcomes in the most vulnerable individuals with TSC. Regardless of whether studies are considered individually or collectively, interpretation is made difficult due to the differences between the studies, most notably between methods and diagnostic criteria used to assess intellectual ability.

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West syndrome: a comprehensive review

et al. 2020

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Since its first clinical description (on his son) by William James West (1793-1848) in 1841, and the definition of the classical triad of (1) infantile spasms; (2) hypsarrhythmia, and (3) developmental arrest or regression as "West syndrome", new and relevant advances have been recorded in this uncommon disorder. New approaches include terminology of clinical spasms (e.g., infantile (IS) vs. epileptic spasms (ES)), variety of clinical and electroencephalographic (EEG) features (e.g., typical ictal phenomena without EEG abnormalities), burden of developmental delay, spectrum of associated genetic abnormalities, pathogenesis, treatment options, and related outcome and prognosis. Aside the classical manifestations, IS or ES may present with atypical electroclinical phenotypes (e.g., subtle spasms; modified hypsarrhythmia) and may have their onset outside infancy. An increasing number of genes, proteins, and signaling pathways play crucial roles in the pathogenesis. This condition is currently regarded as a spectrum of disorders: the so-called infantile spasm syndrome (ISs), in association with other causal factors, including structural, infectious, metabolic, syndromic, and immunologic events, all acting on a genetic predisposing background. Hormonal therapy and ketogenic diet are widely used also in combination with (classical and recent) pharmacological drugs. Biologically targeted and gene therapies are increasingly studied. The present narrative review searched in seven electronic databases (primary MeSH terms/keywords included West syndrome, infantile spasms and infantile spasms syndrome and were coupled to 25 secondary clinical, EEG, therapeutic, outcomes, and associated conditions terms) including MEDLINE, Embase, Cochrane Central, Web of Sciences, Pubmed, Scopus, and OMIM to highlight the past knowledge and more recent advances.

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Manifestations of Tuberous Sclerosis Complex: The Experience of a Provincial Clinic

Cited by 19 publications

References 53 publications

Retrospective radiological and clinical of assessment 16 patients with Tuberous sclerosis

Retrospective radiological and clinical of assessment 16 patients with Tuberous sclerosis

Autism and Epilepsy in Patients With Tuberous Sclerosis Complex

West syndrome: a comprehensive review

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