Last reviewed: November 2017
Last updated: September  2016

Summary

Definition

History and exam

Key diagnostic factors

  • FHx
  • epilepsy
  • cardiac rhabdomyoma (single or multiple)
  • polycystic kidney disease
  • renal angiomyolipoma(s)
  • 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

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

  • neurodevelopmental testing
  • EEG
  • ECG
  • echocardiography
  • renal ultrasound, CT, or MRI
  • chest CT
  • cranial CT
  • cranial MRI
  • genetic testing
  • skeletal x-ray
  • colonoscopy
  • renal biopsy
Full details

Treatment algorithm

Contributors

Authors VIEW ALL

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 monograph.

Peer reviewers VIEW ALL

Consultant Paediatric Neurologist

Great Ormond Street Hospital

London

UK

Disclosures

RR declares that he has no competing interests.

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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