Last reviewed: 20 Dec 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)
- non-traumatic 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
- behavioural problems
- retinal nodular hamartoma(s)
- multiple hamartomatous colonic polyps
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.
Use of this content is subject to our disclaimer