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Complexo da esclerose tuberosa

  • Overview
  • Theory
  • Diagnosis
  • Management
  • Follow up
  • Resources
Last reviewed: 28 Sep 2025
Last updated: 21 Nov 2023

Summary

Definição

História e exame físico

Principais fatores diagnósticos

  • história familiar
  • epilepsia
  • rabdomioma cardíaco (pode ser único ou múltiplo)
  • angiomiolipomas renais
  • linfangioleiomiomatose pulmonar
  • nódulos subependimários calcificados cerebrais
  • múltiplos tubérculos corticais e/ou linhas de migração radial
  • astrocitoma de células gigantes
  • angiofibromas faciais
  • placa(s) cefálica(s)
  • fibromas ungueais ou periungueais não traumáticos
  • máculas hipomelanóticas
  • marca(s) de Shagreen (nevo do tecido conjuntivo)
  • hamartoma(s) nodular(es) retiniano(s)
  • doença renal policística
Detalhes completos

Outros fatores diagnósticos

  • numerosas depressões no esmalte dentário e fibromas intraorais
  • autismo
  • comprometimento cognitivo
  • problemas comportamentais
  • múltiplos pólipos cólicos hamartomatosos
Detalhes completos

Fatores de risco

  • predisposição genética
Detalhes completos

Diagnostic investigations

Investigations to consider

  • teste genético
  • ressonância nuclear magnética (RNM) cranioencefálica
  • avaliação de neurodesenvolvimento
  • eletroencefalograma (EEG)
  • eletrocardiograma (ECG)
  • ecocardiografia
  • ressonância nuclear magnética (RNM) abdominal
  • taxa de filtração glomerular (TFG)
  • pressão arterial
  • tomografia computadorizada (TC) de alta resolução do tórax
  • testes de função pulmonar e teste de caminhada de 6 minutos
  • radiografia esquelética
  • colonoscopia
  • biópsia renal
Full details

Treatment algorithm

ACUTE

carcinoma de células renais (suspeito ou confirmado)

aneurisma intracraniano

ONGOING

neurológico

lesões cutâneas

renal

cardiovascular

pulmonar

cognitivo e comportamental

Contributors

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.
  • Complexo da esclerose tuberosa images

  • Differentials

    • Heterotopia nodular periventricular (HNP)
    • Neoplasia endócrina múltipla tipo 1 (NEM-1)
    • Síndrome de Birt-Hogg-Dubé
    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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