Learning objectives
Describe the central nervous system (CNS) manifestations of tuberous sclerosis complex (TSC),
including a pictorial review of the key imaging on computed tomography (CT) and on magnetic resonance imaging (MRI).
Discuss the main genetic mutations and correlate with imaging findings based on 10 years of experience of our Neuroradiology service.
Background
Advances in genetics,
molecular biology and neuroimaging have led to a better understanding and early recognition of syndromic conditions associated with an increased propensity for developing brain tumors,
like Tuberous Sclerosis Complex,
providing clinically relevant information for screening and surveillance for patients and their families.
Magnetic resonance imaging (MRI) has superior soft-tissue contrast is the preferred imaging modality for these syndromes.
Tuberous Sclerosis Complex (TSC) is a genetically determined hamartomatous neurocutaneous disease with high phenotypic variability,
involving many organ systems.
TSC is an autosomal dominant...
Findings and procedure details
We reviewed the CNS manifestations of TSC,
including cortical tubers,
subependymal nodules,
white matter abnormalities and giant cell astrocytoma,
based in a review of the literature and the experience of our Genetics and Neuroradiology services.
Our Genetics service currently has in its database 30 patients with a definite diagnosis of TSC,
of which 16 have CNS imaging,
mostly MRI.
Cortical Tubers:
Cortical tubers are benign hamartomas of the cerebral cortex,
closely associated with the neurological symptoms of TSC,
including epilepsy,
cognitive impairment and behavioral symptoms....
Conclusion
Recent advances in neuroimaging interpretation and technique have added important elements to the TSC diagnosis,
particularly in atypical clinical presentations or in cases of inadequate therapeutic response.
Brain MRI,
echocardiography,
skin examination and genetic testing should be performed early in every patient suspected of having TSC.
These imaging and genetic findings brought new horizons for an "old" disease.
Personal information
Thaylla Maybe Bedinot Da Conceição
Hospital de Clinicas de Porto Alegre Brasil
email:
[email protected]
References
P.
Curatolo,
R.
Bombardieri,
and S.
Jozwiak,
“Tuberous sclerosis,”The Lancet,
vol.
372,
no.
9639,
pp.
657–668,
2008.
J.
R.
Sampson,
S.
J.
Scahill,
J.
B.
P.
Stephenson,
L.
Mann,
and J.
M.
Connor,
“Genetic aspects of tuberous sclerosis in the west of Scotland,”Journal of Medical Genetics,
vol.
26,
no.
1,
pp.
28–31,
1989.
F.
J.
K.
O'Callaghan,
A.
W.
Shiell,
J.
P.
Osborne,
and C.
N.
Martyn,
“Prevalence of tuberous sclerosis estimated by capture-recapture analysis,”The Lancet,
vol.
351,
no.
9114,
p.
1490,
1998.
J.
R....
