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Radiology
Tuberous Sclerosis
Built from Obstetric Imaging
What’s inside
10 sections · 64 slides
Overview
- Scope and structure of this topic
The disorder
What tuberous sclerosis is, how common it is, and how it is passed on
- Definition of tuberous sclerosis
- Organ systems affected by tuberous sclerosis
- 1:6000-1:10 000
- Frequency and distribution in the population
- Inheritance pattern
Genes and mechanism
TSC1, TSC2 and the mTOR growth cascade
- The TSC1 and TSC2 genes
- Function of the hamartin-tuberin complex
- From gene mutation to hamartoma
- The two-hit hypothesis
- Types of mutation described
- Clinical differences between TSC1 and TSC2 mutations
- Genotype-phenotype correlation
- Contiguous deletion of TSC2 and PKD1
- Patients with no identifiable mutation
Making the diagnosis
Two accepted routes, and the major and minor feature criteria
- Two routes to a diagnosis of tuberous sclerosis
- Diagnostic criteria for tuberous sclerosis
- Using the major and minor feature lists
- Major and Minor Features of Tuberous Sclerosis
- Major and Minor Features of Tuberous Sclerosis (continued)
- Caveat when counting two major features
Clinical manifestations
The classic triad, how often each system is hit, and an organ-by-organ list
- The classic clinical triad
- Facial angiofibromas over the nose and cheeks
- Frequency of involvement by organ system
- Organ-by-organ findings
- Clinical Manifestations and Findings (by Organ System)
- Clinical Manifestations and Findings (by Organ System) (continued)
- Renal angiomyolipomas in tuberous sclerosis
Prenatal ultrasound
Heart, brain and kidney - the only three organs that speak before birth
- Scope of prenatal sonographic findings
- Sonographic appearance of cardiac rhabdomyoma
- Multiple cardiac rhabdomyomas on prenatal ultrasound
- Biventricular view of the fetal heart
- Additional rhabdomyoma in the left atrium
- Risk of tuberous sclerosis after a fetal rhabdomyoma
- Natural history of rhabdomyomas in utero
- Central nervous system findings on prenatal ultrasound
- Renal findings on prenatal ultrasound
- Suspected renal lesion in a fetus at 32 weeks
Fetal MRI
Seeing the intracerebral signs that ultrasound cannot resolve
- Role of fetal magnetic resonance imaging
- Signal characteristics of tuberous sclerosis lesions
- Subependymal tubers on fetal brain MRI
- Evidence linking fetal MRI findings to outcome
- Subependymal nodules on T2-weighted brain MRI
- Subcortical lesion on paired T2 and T1 brain images
Echocardiography and the differential
Grading cardiac involvement, and what else a fetal mass could be
- Role of fetal echocardiography
- Timing of cardiac rhabdomyoma detection
- Resected cardiac rhabdomyoma specimen
- Differential diagnosis of a fetal intracardiac mass
- Differential diagnosis of fetal renal cysts
Treatment options
What happens to the lesions, what can be given in utero, and what follows after birth
- Natural history of the lesions after diagnosis
- Pathway after a cardiac rhabdomyoma is identified
- In utero treatment with mTOR inhibitors
- Prenatal diagnostic testing
- Postnatal surveillance
- Drug therapy targeting the mTOR pathway
What the referring physician needs to know
Referral, assessment and the implications for the parents
- Referral and fetal assessment in pregnancy
- Implications of a fetal diagnosis for the parents
- Key points
- References
- References (continued)
- References (continued)
- References (continued)
- References (continued)
- Obstetric Imaging: Fetal Diagnosis and Care, 2nd Edition