tuberous sclerosis
Post on 17-Aug-2015
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Tuberous sclerosis complex
Dr. Amol LahotiResident, Dept of Radiodiagnosis &
ImagingNKP SIMS & LMH, Nagpur
Group of CNS disorders characterized by • brain malformations or • neoplasms • skin• eye lesions.
The term is derived from the Greek root phako, which refers to the lens
phakomatosis means -tumor-like condition of the eye (lens)
Neurocutaneous Syndromes / Phakomatoses
Neurocutaneous Syndromes
• Neurofibromatosis( types 1 and type 2)• Tuberous sclerosis• Sturge-weber syndrome• Ataxia-telangiectasia• Von hippel-lindau disease
Tuberous sclerosis complex (TSC) Bourneville or Bourneville-Pringle disease.
Characterised by classic clinical triad (vogt triad)
• Facial lesions ("adenoma sebaceum“)• Seizure• Mental retardation.
Clinically:
Epilepsy affecting 80 – 90% infantile spasms simple or complex partial seizures EEG +ve in 75 % of patients
Cognitive deficits 44 – 65%
Autism and behavioral problems
Skin EyesBrainHeart
Lung Kidney
Tuberous Sclerosis Complex (TSC)multiple benign hamartomas:
GENETICS
Autosomal dominant Incidence 1 : 6000 livebirthsMutation in
TSC-1 (Hamartin) or TSC-2 (Tuberin)
+ve family history in 7 – 40%
Cell Proliferation
complex
hamartinTSC1
tuberinTSC2
Hamartin-Tuberin complexCentral regulator of cell cycle
TSC: loss of inhibition to cell cycle
Diagnostic criteria Major Features
Identified clinically Facial angiofibromas or
forehead plaque
Non-traumatic ungual or periungual fibroma
Hypomelanotic macules
Shagreen patch
Multiple retinal nodular hamartomas
Cortical tuber Subependymal nodule Subependymal giant
cell astrocytoma Cardiac rhabdomyoma Lymphangio-
myomatosis Renal angiomyolipoma
Identified on imaging
Minor Features
Multiple pits in dental
enamel
Hamartomatous rectal
polyps
Bone cysts,
Cerebral white matter
migration lines
Gingival fibromas
Non-renal hamartoma
Retinal achromic
patch
Multiple renal cysts
DERMATOLOGICAL LESIONS:
81-95%
Fibrous plaque
Gingival fibromatosis
Diagnosis
OPHTHALMIC MANIFESTATIONS
Retinal hamartoma
Calcified hamartoma
CNS RADIOLOGY MANIFESTATIONS
Radiological major criteria
Cortical Tubers• Cortical tubers are firm, whitish, pyramid-shaped,
elevated areas of smooth gyral thickening, with or without central depressions, that grossly resemble potatoes ("tubers")
• On CT scan, Seen as hypodense cortical/subcortical masses within
broadened and expanded gyri Calcifications in cortical tubers increase with age• Tubers in older children and adults demonstrate
mixed signal intensity on T2/FLAIR
Cortical tuber
Subependymal Nodules• appear as elevated, rounded, hamartomatous lesions• located beneath the ependymal lining of the lateral ventricles,
along the course of the caudate nucleus• Are small(generally < 1.3cm) nodular "bumps" that protrude from
the walls of the lateral ventricles.• In the unmyelinated brain, SENs appear hyperintense on T1WI and
hypointense on T2WI. With progressive myelination, the SENs gradually become isointense with WM
• They often calcify with increasing age• An enhancing or enlarging SEN—especially if located near the
foramen of Monro—is suspicious for SEGA.• Calcified SENs appear variably hypointense on T2WI and are
especially easy to detect on T2* sequences
Subependymal nodules
Subependymal Giant Cell Astrocytoma
• seen almost exclusively in the setting of TSC. • well-circumscribed • solid intraventricular masses• located near the foramen of Monro. • SEGAs are WHO grade I tumors that often
cause obstructive hydrocephalus. most SEGAs are unilateral, bilateral tumors occur in 10-15% of cases
Genetic Criteria
• The identification of either a TSC1 or
TSC2 pathogenic mutation in DNA from normal tissue is sufficient to
make a Definite Diagnosis of TSC
Diagnostic features
associated with increase
morbidity
New symptoms or
papilledema
Hydrocephalu
s
Serial imagi
ng showi
ng growth of
lesions
• Cortical Tubers– Broad, expanded gyrus– CT: Initially hypodense; Ca++ ↑ with age
• 50% of patients eventually develop ≥ 1 calcified tuber(s)
– MR: Periphery isointense, subcortical portion T2/FLAIR hyperintense
• Subependymal Nodules– CT: Ca++ rare in first year; ↑ with age
• 50% eventually calcify• Don't enhance
– MR: T1 hyper-, T2 hypointense; 50% enhance• White Matter Lesions
– T2/FLAIR hyperintense radial lines/wedges• Subependymal Giant Cell Astrocytoma
– CT: Mixed-density mass at foramen of Monro, moderate enhancement
– MR: Heterogeneous signal, strong enhancement
Regression of a SEGA after ~15 months oral rapamycin therapy in a 4-year-old patient with TSC
Thank - you
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