Last reviewed: 5 Nov 2021
Last updated: 12 May 2021

Summary

Definition

History and exam

Key diagnostic factors

  • family history
  • epilepsy
  • cardiac rhabdomyoma (single or multiple)
  • renal angiomyolipomas (AMLs)
  • lymphangioleiomyomatosis of the lung
  • cerebral subependymal calcified nodules
  • giant cell astrocytoma
  • facial angiofibromas
  • cephalic plaque(s)
  • nontraumatic ungual or periungual fibromas
  • hypomelanotic macules
  • shagreen patch(es) (connective tissue nevus)
  • numerous dental enamel pits and gingival fibromas
  • polycystic kidney disease

Other diagnostic factors

  • autism
  • cognitive impairment
  • behavioral problems
  • retinal nodular hamartoma(s)
  • multiple hamartomatous colonic polyps

Risk factors

  • genetic predisposition

Diagnostic investigations

Investigations to consider

  • genetic testing
  • neurodevelopmental testing
  • electroencephalogram
  • ECG
  • echocardiography
  • abdominal MRI
  • high-resolution chest CT
  • pulmonary function tests and 6-minute walk test
  • brain MRI
  • skeletal x-ray
  • colonoscopy
  • renal biopsy

Treatment algorithm

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.

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