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Tuberous sclerosis complex

  • Descripción general
  • Teoría
  • Diagnóstico
  • Manejo
  • Seguimiento
  • Recursos
Última revisión: 13 Sep 2025
Última actualización: 07 Jan 2025

Resumen

Definição

História e exame físico

Principais fatores diagnósticos

  • family history
  • epilepsy
  • cardiac rhabdomyoma (single or multiple)
  • renal angiomyolipomas
  • lymphangioleiomyomatosis of the lung
  • cerebral subependymal calcified nodules
  • multiple cortical tubers and/or radial migration lines
  • giant cell astrocytoma
  • facial angiofibromas
  • cephalic plaque(s)
  • nontraumatic ungual or periungual fibromas
  • hypomelanotic macules
  • shagreen patch(es) (connective tissue nevus)
  • retinal nodular hamartoma(s)
  • polycystic kidney disease
Detalhes completos

Outros fatores diagnósticos

  • numerous dental enamel pits and intraoral fibromas
  • autism
  • cognitive impairment
  • behavioral problems
  • multiple hamartomatous colonic polyps
Detalhes completos

Fatores de risco

  • genetic predisposition
Detalhes completos

Investigações diagnósticas

Investigações a serem consideradas

  • genetic testing
  • brain MRI
  • neurodevelopmental assessment
  • electroencephalogram (EEG)
  • ECG
  • echocardiography
  • abdominal MRI
  • glomerular filtration rate (GFR)
  • blood pressure
  • high-resolution chest CT
  • pulmonary function tests and 6-minute walk test
  • skeletal x-ray
  • colonoscopy
  • renal biopsy
Detalhes completos

Algoritmo de tratamento

AGUDA

renal cell carcinoma (suspected or confirmed)

intracranial aneurysm

CONTÍNUA

neurologic

skin lesions

renal

cardiovascular

pulmonary

cognitive and behavioral

Colaboradores

Authors

Francis J. DiMario Jr, MD, MA, FAAP

Professor of Pediatrics and Neurology

University of Connecticut School of Medicine

Associate Chair for Academic Affairs and Faculty Development

Department of Pediatrics

Academic Chief Emeritus

Division of Pediatric Neurology

Connecticut Children's Medical Center

Hartford

CT

Disclosures

FJD is an author of a number of references cited in this topic.

Peer reviewers

Robert Robinson, MBBS, MA, MRCP, PhD

Consultant Paediatric Neurologist

Great Ormond Street Hospital

London

UK

Disclosures

RR declares that he has no competing interests.

David Neal Franz, MD

Professor of Pediatrics and Neurology

Director

Tuberous Sclerosis Clinic

University of Cincinnati College of Medicine

Cincinnati Children's Hospital Medical Center

Cincinnati

OH

Disclosures

DNF declares that he has no competing interests.

Peer reviewer acknowledgements

BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.

Disclosures

Peer reviewer affiliations and disclosures pertain to the time of the review.

References

Our in-house evidence and editorial teams collaborate with international expert contributors and peer reviewers to ensure that we provide access to the most clinically relevant information possible.

Key articles

Northrup H, Aronow ME, Bebin EM, et al. Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations. Pediatr Neurol. 2021 Oct;123:50-66.Full text  Abstract

Caban C, Khan N, Hasbani DM, et al. Genetics of tuberous sclerosis complex: implications for clinical practice. Appl Clin Genet. 2016 Dec 21;10:1-8.Full text  Abstract

Amin S, Kingswood JC, Bolton PF, et al. The UK guidelines for management and surveillance of tuberous sclerosis complex. QJM. 2019 Mar 1;112(3):171-82.Full text  Abstract

de Vries PJ, Whittemore VH, Leclezio L, et al. Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND Checklist. Pediatr Neurol. 2015 Jan;52(1):25-35.Full text  Abstract

Li M, Zhou Y, Chen C, et al. Efficacy and safety of mTOR inhibitors (rapamycin and its analogues) for tuberous sclerosis complex: a meta-analysis. Orphanet J Rare Dis. 2019 Feb 13;14(1):39.Full text  Abstract

Reference articles

A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
  • Tuberous sclerosis complex images

  • Differentials

    • Periventricular nodular heterotopia (PNH)
    • Multiple endocrine neoplasia (MEN-1)
    • Birt-Hogg-Dubé syndrome
    More Differentials

  • Guidelines

    • Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations
    • Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations
    More Guidelines
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