Tuberous sclerosis complex - Symptoms, Causes, Images, and Treatment Options

Diseases

Highlights & Basics

Key Highlights

Tuberous sclerosis complex is an autosomal-dominant, neurocutaneous, multisystem disorder characterized by cellular hyperplasia, tissue dysplasia, and multiple organ hamartomas.
The most commonly identified clinical presentations are epilepsy (infantile spasms), autism and cognitive impairment, and neonatal cardiac rhabdomyomas.
The primary recognized neurocutaneous features include dental pits, hypopigmented macules (ash leaf spots), facial angiofibromas, and ungual fibromas.
Cardiac rhabdomyomas regress in early childhood and are generally asymptomatic, whereas renal angiomyolipomas and giant cell astrocytomas progress in adolescence and adulthood. Renal complications are second only to central nervous system complications as a cause of significant morbidity.
Lymphangioleiomyomatosis of the lung associated with tuberous sclerosis is unique in that it is identified in females only and arises from metastases from renal angiomyolipomas.

Subependymal nodules and cortical tubers on axial T2 MRI

Courtesy of Dr Francis J. DiMario Jr

Quick Reference

History & Exam
- Key Factors
- Other Factors
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Diagnostics Tests
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Treatment Options
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Definition

Epidemiology

Etiology

Pathophysiology

Images

Hypomelanotic macules and shagreen patch
Cardiac rhabdomyoma on sagittal T1 MRI
Polycystic kidneys
Multiple renal angiomyolipomas on axial CT
Multiple renal angiomyolipomas on coronal T1 MRI
Cystic lesions in lymphangioleiomyomatosis of the lung (LAM) on axial CT
Subependymal calcified nodules on CT
Large subependymal giant cell astrocytoma on MRI (A-axial T2)
Large subependymal giant cell astrocytoma on MRI (B-sagittal T1)
Facial angiofibromas
Ungual fibroma
Retinal hamartoma
Forehead plaque
Subependymal nodules and cortical tubers on axial T2 MRI

Citations

Key Articles

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.[Abstract][Full Text]
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.[Abstract][Full Text]
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.[Abstract][Full Text]
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.[Abstract]
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.[Abstract][Full Text]
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.[Abstract][Full Text]

Other Online Resources

LOVD: TSC1
LOVD: TSC2
TAND checklist
Infantile Spasms Action Network: what does IS look like?
Tuberous Sclerosis Alliance

Referenced Articles

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