Liver Angiomyolipomas in Tuberous Sclerosis Complex—Their Incidence and Course

Jóźwiak, Sergiusz; Sadowski, Krzysztof; Borkowska, Julita; Domańska-Pakieła, Dorota; Chmielewski, Dariusz; Jurkiewicz, Elżbieta; Jaworski, Maciej; Urbańska, Małgorzata; Ogrodnik, Magdalena; Słowińska, Monika; Kotulska, Katarzyna

doi:10.1016/j.pediatrneurol.2017.09.012

Cited by 15 publications

(23 citation statements)

References 52 publications

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“…Hepatic involvement in the form of hamartomas was found only in the TSC2 group in our cohort, which is similar to previous reports, although some larger cohorts have documented their presence in all groups. 13 , 23 , 24 It has been previously observed that cardiac rhabdomyomas are more common in TSC2 mutations, 13 , 15 although our data did not demonstrate this finding.…”

Section: Discussioncontrasting

confidence: 98%

The Phenotypic Spectrum of Tuberous Sclerosis Complex: A Canadian Cohort

Alsowat

Whitney

Hewson

et al. 2021

Child Neurology Open

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Objective: We aimed to further elucidate the phenotypic spectrum of Tuberous Sclerosis Complex (TSC) depending on genotype. Methods: A retrospective review of patients seen in the TSC clinic at the Hospital for Sick Children was conducted and the frequency of TSC manifestations was compared based on genotype. Results: Nineteen-patients had TSC1 mutations, 36 had TSC2 mutations and 11 had no mutation identified (NMI). Patients with TSC2 mutations had a higher frequency of early-onset epilepsy and more frequent systemic manifestations. The NMI group had milder neurologic and systemic manifestations. Our data did not demonstrate that intellectual disability and infantile spasms were more common in TSC2 mutations. Conclusions: This is the first Canadian pediatric cohort exploring the genotype-phenotype relationship in TSC. We report that some manifestations are more frequent and severe in TSC2 mutations and that NMI may have a milder phenotype. Disease surveillance and counseling should continue regardless of genotype until this is better elucidated.

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Section: Discussioncontrasting

confidence: 98%

The Phenotypic Spectrum of Tuberous Sclerosis Complex: A Canadian Cohort

Alsowat

Whitney

Hewson

et al. 2021

Child Neurology Open

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“…Hepatic lesions are common in TSC but very rarely cause any clinical problems (31). They do not need to be regularly monitored.…”

Section: Discussionmentioning

confidence: 99%

Tuberous Sclerosis Complex (TSC): Expert Recommendations for Provision of Coordinated Care

et al. 2019

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“…Neural manifestations play an extremely important role in disease prognosis and progression among pediatric TSC patients, with a prevalence of up to 90% (4). However, recent studies have increasingly recognized new phenotypes of TSC without neural conditions but involving other vital organs, such as TSC-associated renal diseases, liver angiomyolipoma (AML), and co-existing lesions (1,5,6).…”

Section: Original Articlementioning

confidence: 99%

Abdominal ultrasonographic manifestations in pediatric patients with tuberous sclerosis complex

et al. 2020

Transl Pediatr

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Background: Tuberous sclerosis complex (TSC) is a rare genetic disease which leads to formation of benign tumors in the brain and other organs of the body. Ultrasound (US) can detect the location, quantity, size and internal echo of TSC-associated renal diseases, liver angiomyolipoma (AML), and coexisting lesions, providing important diagnostic basis for clinical diagnosis. The aim of the present study was to investigate the abdominal ultrasonographic features of pediatric TSC and explore the advantages of abdominal ultrasonography in clinical practice.Methods: Data of children with TSC, who presented to the Second Affiliated Hospital and Yuying Children's Hospital, Wenzhou Medical University, between January 2016 and November 2018, were analyzed by a retrospective chart review. The cases were identified from electronic medical records (EMR) system and underwent ultrasonography, we yielded a total of 12 patients. Results:The 12 pediatric patients, including 5 boys and 7 girls, ranged in age from 9 months to 13 years old. And they all had a history of epilepsy. All the patients underwent brain magnetic resonance imaging (MRI) or computed tomography (CT) examination, which revealed a scattered distribution of multiple hyperintense nodules. Of the 12 patients, 10 had TSC-associated bilateral renal AMLs, 5 had hepatic AML, and 4 had renal cysts.Conclusions: US is a useful and non-invasive tool for the detection of TSC-associated renal and liver lesions and for clinical follow-up among pediatric patients.

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Liver Angiomyolipomas in Tuberous Sclerosis Complex—Their Incidence and Course

Cited by 15 publications

References 52 publications

The Phenotypic Spectrum of Tuberous Sclerosis Complex: A Canadian Cohort

The Phenotypic Spectrum of Tuberous Sclerosis Complex: A Canadian Cohort

Tuberous Sclerosis Complex (TSC): Expert Recommendations for Provision of Coordinated Care

Abdominal ultrasonographic manifestations in pediatric patients with tuberous sclerosis complex

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