Tuberous sclerosis complex

Last reviewed: 3 Jun 2022
Last updated: 07 Apr 2022

Summary

Definition

History and exam

Key diagnostic factors

  • 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)
  • non-traumatic ungual or periungual fibromas
  • hypomelanotic macules
  • shagreen patch(es) (connective tissue nevus)
  • retinal nodular hamartoma(s)
  • polycystic kidney disease
More key diagnostic factors

Other diagnostic factors

  • numerous dental enamel pits and intraoral fibromas
  • autism
  • cognitive impairment
  • behavioural problems
  • multiple hamartomatous colonic polyps
Other diagnostic factors

Risk factors

  • genetic predisposition
More risk factors

Diagnostic investigations

Investigations to consider

  • 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
More investigations to consider

Treatment algorithm

ACUTE

renal cell carcinoma (suspected or confirmed)

intracranial aneurysm

ONGOING

neurological

skin lesions

renal

cardiovascular

pulmonary

cognitive and behavioural

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.

  • 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
    • The UK guidelines for management and surveillance of tuberous sclerosis complex
    More Guidelines
  • padlock-lockedLog in or subscribe to access all of BMJ Best Practice

Use of this content is subject to our disclaimer