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Complexo da esclerose tuberosa

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

Summary

Definition

Anamnesis y examen

Principales factores de diagnóstico

  • 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
Todos los datos

Otros factores de diagnóstico

  • numerosas depressões no esmalte dentário e fibromas intraorais
  • autismo
  • comprometimento cognitivo
  • problemas comportamentais
  • múltiplos pólipos cólicos hamartomatosos
Todos los datos

Factores de riesgo

  • predisposição genética
Todos los datos

Pruebas diagnósticas

Pruebas diagnósticas que deben considerarse

  • 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
Todos los datos

Algoritmo de tratamiento

Agudo

carcinoma de células renais (suspeito ou confirmado)

aneurisma intracraniano

En curso

neurológico

lesões cutâneas

renal

cardiovascular

pulmonar

cognitivo e comportamental

Colaboradores

Autores

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

Divulgaciones

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

Revisores por pares

Robert Robinson, MBBS, MA, MRCP, PhD

Consultant Paediatric Neurologist

Great Ormond Street Hospital

London

UK

Divulgaciones

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

Раскрытие информации

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.

Список литературы

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.

Основные статьи

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.Полный текст  Аннотация

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.Полный текст  Аннотация

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.Полный текст  Аннотация

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.Полный текст  Аннотация

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.Полный текст  Аннотация

Статьи, указанные как источники

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