Learning objectives
Ientify the radiologic features of multiorgan involvment in patients with tuberous sclerosis complex (TSC).
Understand which organ manifestation can be a clue to suspect the presence of TSC even if no clinical signs are seen.
Background
TSC is a rare autosomal dominant neurocutaneous syndrome characterized by the presence of benign congenital tumors in multiple organs.
Hamartomas are frequently present in the skin,
brain,
kidneys and heart.
Less frequently hamartomas involve the lungs,
retina,
gengiva,
bones and gastrointestinal tract.
The wide range of organs affected by the disease implies that TSC1 and TSC2 genes play important roles in the regulation of cell proliferation and differentiation.
The classic Vogt's triad (facial angiofibromas,
mental retardation and intractable epilepsy) is presnet in less than 40%...
Findings and procedure details
Radiological features indicative of TSC include:
Intracranial manifestations:1) Cortical tubersare areas of disorganized cortex commonly located at the gray-white juction (approximately 50% in the frontal lobes).
They are considered to be closely related to the neurologic manifestation of TSC,
including epilepsy,
cognitive disability and neurobehavioural abnormalities.
On magnetic resonance imaging (MRI),
cortical tubers tipically appear as well-circumscribed areas of low signal intensity on T1-weigthed images and hypertintense on T2-weighted and FLAIR.
In neonates and infants with a background of unmyelinated white matter,
cortical tubers have...
Conclusion
TSC is a multisystem disorder characterized by a wide spectrum of clinical and imaging features.
Due to better imaging methods,
estimates of TSC frequency have risen dramatically in the recent years as individuals with less severe manifestations of the disorder are identified.
Recogniton of specific radiologic features is essential for making the correct diagnosis.
Moreover,
identification of patients at risk for severe manifestations of TSC and understanding the clinical impact of different radiological findings is crucial to improve management and outcomes.
Personal information
Dr.
Roberta Ioppolo
Department of Experimental Diagnostic and Specialty Medicine (DIMES),
Operative Unit of Radiology,
S.
Orsola University Hospital,Via Massarenti 9,
40138,
Bologna,
Italy.
Phone: 0039 3332514136
e-mail:
[email protected]
References
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Umeoka S,
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Pictorial review of Tuberous Sclerosis in various organs.
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Radhakrishnan R,
Verma S.
Clinically relevant imaging in tuberous sclerosis.
J Clin Imaging Sci 2011;1:39.
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Khurana S,
Malik S,
Agarwal S.
Varied manifestations of tuberous sclerosis.
Med J DY Patil Univ 2015;8:401-3.
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von Ranke FM,
Faria IM,
Zanetti G,
Hochhegger B,
Souza AS Jr,
Marchiori E.
Imaging of tuberous sclerosis complex: a pictorial review.
Radiol...