ArticlePediatrics2017
Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants.
Article in Pediatrics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 78 papers, 1 of them a synthesis that pooled it.
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Who cites it
78 citing papers in PubMed, 1 synthesis or guideline pooled it.
- The association of neurodevelopmental abnormalities, congenital heart and renal defects in a tuberous sclerosis complex patient cohort.BMC medicine · 2022Pooled it
- Attrition in a telehealth caregiver-mediated behavioral intervention for children with tuberous sclerosis complex: A mixed-methods study.Developmental medicine and child neurology · 2026Trial
- Vitiligo and Its Mimics in Childhood: A Diagnostic Framework for Hypopigmented Disorders.Annals of dermatology · 2026Review
- A two-step temporal data augmentation and supervised learning framework for predicting autism diagnosis at 36 months in patients with tuberous sclerosis complex.Computers in biology and medicine · 2026Article
- Article
- Genotypic and phenotypic features of 23 Egyptian patients with tuberous sclerosis complex.BMC pediatrics · 2026Observational
- Neonatal Seizures in Tuberous Sclerosis Complex: A Case Series.Annals of the Child Neurology Society · 2026Article
- Original investigation: evolution of long-term cardiac tumours in patients with tuberous sclerosis.Orphanet journal of rare diseases · 2026Article
- An Open-Source Pipeline for Calcium Imaging and All-Optical Physiology in Human Stem Cell-Derived Neurons.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Tuberous sclerosis complex.Nature reviews. Disease primers · 2026Review
- Convolutional neural networks for automatic tuber segmentation and quantification of tuber burden in tuberous sclerosis complex.Epilepsia · 2026Article
- Ictal vomiting as the first manifestation of Tuberous Sclerosis Complex: report of two pediatric cases.Italian journal of pediatrics · 2026Article
- Delayed Diagnosis of Tuberous Sclerosis Complex: A Case Report of Abdominal Distension, Pain, and Severe Anemia.Clinical case reports · 2026Article
- Prenatal ultrasound diagnosis of fetal cardiac rhabdomyoma and analysis of clinical outcomes.Quantitative imaging in medicine and surgery · 2026Article
- Difference in pre- and postnatal prevalence of congenital cardiac tumors in a large population-based cohort.Acta obstetricia et gynecologica Scandinavica · 2025Observational
- Deep developmental phenotyping in children with tuberous sclerosis complex, with and without autism.Developmental medicine and child neurology · 2025Article
- Paediatric cranial ultrasound: abnormalities of the brain in term neonates and young infants.Insights into imaging · 2025Article
- Newborn with Refractory Seizures due to Hemimegalencephaly and Tuberous Sclerosis Complex: Case Report and Literature Review.Neuropediatrics · 2025Review
- Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized, observer-blind, controlled phase IIb national multicentre clinical trial: study protocol.Orphanet journal of rare diseases · 2025Article
- Diagnostic flow analysis of tuberous sclerosis complex in Japan: a retrospective claims database study.Orphanet journal of rare diseases · 2024Article
18 more citing papers are in PubMed but not listed here.
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11 authors.
Funding
Abstract
objectivesTuberous sclerosis complex (TSC) is a neurocutaneous genetic disorder with a high prevalence of epilepsy and neurodevelopmental disorders. TSC can be challenging to diagnose in infants because they often do not show many clinical signs early in life. In this study, we describe the timing and pattern of presenting and diagnostic features in a prospective longitudinal study of infants with TSC.
methodsTwo multicenter, prospective studies enrolled 130 infants with definite TSC by clinical or genetic criteria and followed them longitudinally up to 36 months of age. Periodic study visits included medical and seizure histories, physical and neurologic examinations, and developmental assessments. Ages at which major and minor features of TSC and seizures were first identified were analyzed.
resultsThe most common initial presenting features of TSC were cardiac rhabdomyomas (59%) and hypomelanotic macules or other skin findings (39%), and 85% of infants presented with either or both. Ultimately, the most prevalent diagnostic TSC features were hypomelanotic macules (94%), tubers or other cortical dysplasias (94%), subependymal nodules (90%), and cardiac rhabdomyomas (82%). Thirty-five percent of infants presented prenatally, 41% presented at birth or within the first month of life, and 74% met criteria for TSC diagnosis at or within 30 days of presentation. Seizure onset occurred before or at initial presentation in only 15% of infants, but 73% developed epilepsy within the first year of life.
conclusionsInfants with TSC can often be identified early, before the onset of neurologic sequelae, enabling earlier diagnosis, surveillance, and possibly disease-modifying treatment.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.