529 lines
35 KiB
Markdown
529 lines
35 KiB
Markdown
---
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title: "Tuberous Sclerosis Complex"
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docid: "60611839-bd46-4b21-a671-d7f62e45b967"
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authors:
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- key: "47381de4-c9fd-4999-8dd0-1808cd72db6b"
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value: "Luke L. Linscott, MD"
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breadcrumbs:
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-
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name: "Pediatrics"
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slug: "pediatrics"
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treeNodeId: "a915965c-d436-44cf-ae65-2f22e7246ea4"
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-
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name: "Diagnosis"
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slug: "diagnosis"
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treeNodeId: "2b5cea64-a083-489e-ac0c-ec14ba059026"
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name: "Pediatric Neuroradiology"
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slug: "pediatric-neuroradiology"
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treeNodeId: "d0eb8f4a-e769-43dd-896c-8c9c27ce8759"
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-
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name: "Brain"
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slug: "brain"
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treeNodeId: "feaaadba-649b-4f0a-9aad-9188a8f9926a"
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-
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name: "Pathology-Based Diagnoses"
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slug: "pathology-based-diagnoses"
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treeNodeId: "2d26053f-23a7-4062-bf35-a93775ae1209"
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-
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name: "Congenital Malformations"
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slug: "congenital-malformations"
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treeNodeId: "d91c5055-1937-4e1d-8518-c37a63306e87"
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name: "Familial Tumor/Neurocutaneous Syndromes"
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slug: "familial-tumorneurocutaneous-syndr-"
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treeNodeId: "0bc21363-6bb4-4742-b039-6e7860801b42"
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-
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name: "Tuberous Sclerosis Complex"
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slug: "tuberous-sclerosis-complex"
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treeNodeId: null
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category: "Pediatrics"
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cmeTopicId: "a8decdb5-42a4-493f-823d-058ab6803340"
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documentVersionId: "f2af2581-a4fa-479d-9940-13179f8f34b2"
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imageCount: 29
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lastUpdated: "02/13/24"
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pageDescription: "Tuberous Sclerosis Complex"
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pageKeywords: "Pediatrics, Diagnosis, Pediatric Neuroradiology, Brain, Pathology-Based Diagnoses, Congenital Malformations, Familial Tumor/Neurocutaneous Syndromes, Tuberous Sclerosis Complex"
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pageTitle: "Tuberous Sclerosis Complex | STATdx"
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enhancedTitle: "Tuberous Sclerosis Complex"
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type: "DX"
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references: true
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breadcrumbs:
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- "Pediatrics"
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||
- "Diagnosis"
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||
- "Pediatric Neuroradiology"
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||
- "Brain"
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||
- "Pathology-Based Diagnoses"
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- "Congenital Malformations"
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- "Familial Tumor/Neurocutaneous Syndromes"
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- "Tuberous Sclerosis Complex"
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---
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# KEY FACTS
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- ## Terminology
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- Hamartomas of multiple organs → CNS, skin, kidney, bone
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- ## Imaging
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- Cerebral tubers
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- Cortical/subcortical lesion expanding overlying gyri
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- T2/FLAIR hyperintense, T1 hypointense after myelination
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- T1 hyperintense prior to myelination
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- Cerebellar tubers
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- Wedge-shaped foci of volume loss
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- Often enhance & calcify
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- Subependymal nodules (SENs)
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- Elongated nodules in locations of fetal germinal matrix
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- Increasing Ca⁺⁺ over time
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- 30-80% enhance
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- Subependymal giant cell astrocytoma (SEGA)
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- Growing nodule at caudothalamic groove
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- WHO grade 1 neoplasm
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- ## Top Differential Diagnoses
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- Focal cortical dysplasia
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- Dysembryoplastic neuroepithelial tumor
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- Ganglioglioma
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- TORCH infections that cause periventricular Ca⁺⁺
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- X-linked subependymal heterotopia
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- ## Pathology
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- 2 distinct gene loci
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- *TSC1* (9q34) encodes **hamartin**
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- *TSC2* (16p13) encodes **tuberin** → more severe
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- ## Clinical Issues
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- Medical antiseizure therapy, resection of seizure focus
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- mTOR inhibitors now 1st-line therapy for SEGA
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- ## Diagnostic Checklist
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- Tubers + SEN pathognomonic for TSC
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- Surveillance imaging is performed to detect SEGA
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# TERMINOLOGY
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- ## Abbreviations
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- Tuberous sclerosis complex (TSC)
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- ## Synonyms
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- Bourneville syndrome, Pringle disease, epiloia
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- ## Definitions
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- Neurocutaneous syndrome: Hamartomatosis
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- Hamartomas of multiple organs → CNS, skin, kidney, bone
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- "Original" phakomatosis
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- "Phakoma" 1st used by Dutch ophthalmologist to describe retinal hamartoma
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# IMAGING
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- ## General Features
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- ### Best diagnostic clue
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- Cerebral & cerebellar "tubers"
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- Tubers = potato-like texture observed at surgery
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- Dysplastic lesions present from birth
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- Subependymal nodules (SENs)
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- Subependymal giant cell astrocytoma (SEGA)
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- ### Location
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- Tubers → cerebrum (90%) > cerebellum (24-36%)
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- SEN → anatomic distribution is same as fetal germinal matrix with preponderance in caudothalamic grooves
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- Caudothalamic groove > body/atrium > temp horn
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- SEGA → enlarging mass at foramen of Monro
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- ### Morphology
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- Tubers
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- Cerebral
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- Cortical/subcortical tubers expand overlying gyri
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- Cystic tuber degeneration → "empty gyri"
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- Often associated with radial migration lines extending toward lateral ventricles
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- Cerebellar
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- Typically wedge-shaped foci with volume loss & folia distortion
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- SENs
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- Usually small, nodular foci along ventricle margin
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- Majority calcify (↑ Ca⁺⁺ with ↑ age)
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- SEGAs become more spherical with ↑ size
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- ## Radiographic Findings
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- ### Radiography
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- Sclerotic bone islands (axial skeleton)
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- Lucent bone "cysts" with undulating periosteal new bone (hands, feet)
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- ## CT Findings
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- ### NECT
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- SENs → Ca⁺⁺ ↑ with time
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- Tubers → low-attenuation subcortical lesion expanding overlying gyri
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- Cerebral tubers usually noncalcified (↑ Ca⁺⁺ with ↑ age)
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- Cerebellar tubers often calcified (~ 30%)
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- Hamartomatous lobe → Ca⁺⁺ in dysplasia/hamartoma of entire lobe (frontal) or hemisphere
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- Giant optic drusen → Ca⁺⁺ in retinal hamartoma
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- ### CECT
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- Most SENs enhance → may be masked by Ca⁺⁺
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- Some tubers faintly enhance
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- ### CTA
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- Aneurysms occur infrequently (0.74%)
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- ## MR Findings
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- ### T1WI
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- SENs → typically slightly hyperintense
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- Best shown on sagittal & coronal images
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- Tubers & radial migration lines are T1 hyperintense in very young patients prior to myelination
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- Tubers & radial migration lines become T1 hypointense after myelination
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- Magnetization transfer ↑ detection of cortical tubers & radial migration lines in children
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- ### T2WI
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- Tubers/radial migration lines typically inconspicuous in very young patients prior to myelination
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- More apparent (hyperintense) with maturation of normal myelin (hypointense)
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- ### FLAIR
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- Tubers → hyperintense
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- "Empty gyri" & periventricular cysts suppress completely
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- Best sequence for detection of tubers & radial migration lines
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- ### T2* GRE
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- Helpful to show Ca⁺⁺ in tubers & SENs
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- ### DWI
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- ↑ ADC values reported in epileptogenic tubers
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- ↑ diffusivity & ↓ fractional anisotropy (FA) values in normal-appearing white matter (WM)
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- ### T1WI C+
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- Best sequence for showing SEN enhancement
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- 3-4% of cortical tubers enhance
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- 33-92% of cerebellar tubers enhance
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- ### MRA
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- Aneurysms (0.74%) & ectasias occasionally encountered
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- ### MRS
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- ↑ myo-inositol (mI) in central & peripheral lesions
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- ↓ NAA with ↑ mI in SEN at foramen of Monro = SEGA
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- ## Angiographic Findings
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- Conventional
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- Used for diagnosis (beyond CTA/MRA) & treatment of aneurysms
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- ## Nuclear Medicine Findings
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- ### PET
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- Tubers are hypometabolic
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- ## Other Lesions
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- Cerebral aneurysms (0.78%) & dolichoectasia
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- Retinal hamartoma
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- Giant optic drusen
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- Renal angiomyolipoma (RAM)
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- 40-80% incidence
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- Amenable to embolization to reduce bleeding risk
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- Lymphangioleiomyomatosis (LAM)
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- Cardiac rhabdomyoma
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- Present at birth, usually resolves spontaneously
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- May be multifocal
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- Sclerotic bone islands & cysts
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- ## Imaging Recommendations
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- ### Best imaging tool
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- MR ± contrast
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- ### Protocol advice
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- Use DWI to assess epileptogenic foci
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- ↑ MR field strength may improve tuber detection
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# DIFFERENTIAL DIAGNOSIS
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- ## Infection
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- [TORCH infections that cause periventricular Ca⁺⁺](/document/torch-infections-overview/e02da955-3e5b-4079-8863-5832b5338f00)
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- CMV, toxoplasmosis
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- May be distinguished by location outside distribution of fetal germinal matrix
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- Periventricular, not subependymal
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- Hematogenous spread of infections that cause subcortical lesions
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- [Fungus](/document/fungal-diseases/e8be0e10-a70b-47a6-9f04-ae81ed4ababc)
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- [Neurocysticercosis](/document/neurocysticercosis/6a45835f-6d7c-443e-874a-f33131d3def1)
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- ## Neoplasms
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- Superficial tumors that can resemble tubers
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- [Dysembryoplastic neuroepithelial tumor (DNET)](/document/dnet/30baaad9-4835-4cf0-8b95-974d6517511e)
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- [Ganglioglioma](/document/ganglioglioma/207fb0f4-9899-44b1-bfe5-33c696960d6a)
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- Angiocentric glioma
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- Intraventricular tumors
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- [Choroid plexus tumors](/document/choroid-plexus-papilloma/18e712f5-8553-487d-a939-044336cbf0ad)
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- [Subependymoma](/document/subependymoma/b899ded1-d2f2-4dc4-9812-48d3fb194117)
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- Central neurocytoma
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- [Focal Cortical Dysplasia](/document/focal-cortical-dysplasia/046564e0-5bb7-4f23-8a3e-010a68cfbafe)
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- Especially type II
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- [X-Linked Subependymal Heterotopia](/document/heterotopic-gray-matter/c88b27b7-d352-4231-b296-bd9d93b8c68b)
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- Gray matter heterotopia along lateral ventricle margins
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- No Ca⁺⁺ or enhancement
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- [Subcortical Ischemia, Infarction](/document/childhood-stroke/12f14b63-8dd0-4523-afe1-6fda2331e6bf)
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- Regions of hyperintense subcortical signal on T2WI & FLAIR
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- Restricted diffusion, gyral swelling
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# PATHOLOGY
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- ## General Features
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- ### Etiology
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- Tuberin & hamartin combine to form complex in vivo
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- Act together to regulate mTOR pathway
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- **M**ammalian **t**arget **o**f**r**apamycin
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- Normally inhibit part of mTOR activity
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- Regulate cell growth & proliferation
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- Mutations prevent them from downregulating mTOR
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- Affects germinal matrix → disordered neuronal migration & growth
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- ### Genetics
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- 2 distinct gene loci
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- *TSC1* (9q34) encodes **hamartin**
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- *TSC2* (16p13) encodes **tuberin**
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- *TSC2*most common with severe phenotype
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- More likely to have complex partial seizures, infantile spasms, SEGAs, & intellectual disability
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- 1/3 familial
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- Autosomal dominant, high penetrance
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- ### Associated abnormalities
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- RAM → 40-80% incidence, amenable to embolization
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- Cardiac rhabdomyomas → majority involute spontaneously
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- ## Staging, Grading, & Classification
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- SEGA = WHO grade 1 neoplasm
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- Diagnostic criteria: 2 major (definite) or 1 major + 1 minor (probable)
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- Major: Tubers &/or radial migration lines, SEN, SEGA, cardiac rhabdomyoma, RAM, LAM, adenoma sebaceum, sub-/periungual fibroma, hypomelanotic macules, shagreen patch, retinal hamartoma
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- Minor: WM lesions, dental pits, gingival fibromas, rectal polyps, bone cysts, nonrenal hamartoma, retinal achromic patch, confetti skin lesions, multiple renal cysts
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- Genetic testing detects mutations in 60-80% of affected individuals
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- ## Gross Pathologic & Surgical Features
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- Firm cortical masses with umbilication
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- ## Microscopic Features
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- Tubers: Balloon cells, giant cells, ectopic neurons
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- Tubers share many histopathologic features with focal cortical dysplasia (FCD) type 2B
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- Myelin loss, vacuolation, & gliosis
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# CLINICAL ISSUES
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- ## Presentation
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- Classic clinical triad: Adenoma sebaceum, seizures, intellectual disability
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- Seen in only 30-40%
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- Infantile spasms → poorer outcome
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- Autism
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- ## Demographics
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- ### Age
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- Rhabdomyomas present prenatally & in infancy
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- CNS lesions present in infancy & childhood
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- Skin lesions present in childhood
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- Renal, lung, & bone lesions present in adolescence & adulthood
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- ### Epidemiology
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- 1:10,000 incidence
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- ## Natural History & Prognosis
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- Prognosis dependent upon severity of symptoms (seizures, arrhythmias, renal insufficiency) & success of treatment
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- ## Treatment
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- Medical antiseizure therapy, resection of seizure focus
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- mTOR inhibitors now 1st-line therapy for SEGA
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- Have been shown to be highly effective at reducing seizure frequency
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# DIAGNOSTIC CHECKLIST
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- ## Consider
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- ↑ incidence of non-CNS lesions as patients age
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- ## Image Interpretation Pearls
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- Do not forget to look for vascular lesions
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5f44e44e-70b6-4d31-8fc1-0932e468be02
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## References
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# Selected References
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1. [Goergen SK et al: Prenatal MR imaging phenotype of fetuses with tuberous sclerosis: an institutional case series and literature review. AJNR Am J Neuroradiol. 43(4):633-8, 2022](http://www.ncbi.nlm.nih.gov/pubmed/?term=35332020%5Bpmid%5D)
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1. [Northrup H et al: Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations. Pediatr Neurol. 123:50-66, 2021](http://www.ncbi.nlm.nih.gov/pubmed/?term=34399110%5Bpmid%5D)
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1. [Wang MX et al: Tuberous sclerosis: current update. Radiographics. 41(7):1992-2010, 2021](http://www.ncbi.nlm.nih.gov/pubmed/?term=34534018%5Bpmid%5D)
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1. [Russo C et al: Neuroimaging in tuberous sclerosis complex. Childs Nerv Syst. 36(10):2497-509, 2020](http://www.ncbi.nlm.nih.gov/pubmed/?term=32519125%5Bpmid%5D)
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1. [Gül Mert G et al: Factors affecting epilepsy prognosis in patients with tuberous sclerosis. Childs Nerv Syst. 35(3):463-8, 2019](http://www.ncbi.nlm.nih.gov/pubmed/?term=30673834%5Bpmid%5D)
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1. [Curatolo P et al: Management of epilepsy associated with tuberous sclerosis complex: updated clinical recommendations. Eur J Paediatr Neurol. 22(5):738-48, 2018](http://www.ncbi.nlm.nih.gov/pubmed/?term=29880258%5Bpmid%5D)
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1. [Sun K et al: Magnetic resonance imaging of tuberous sclerosis complex with or without epilepsy at 7 T. Neuroradiology. 60(8):785-94, 2018](http://www.ncbi.nlm.nih.gov/pubmed/?term=29869697%5Bpmid%5D)
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1. [French JA et al: Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study. Lancet. 388(10056):2153-63, 2016](http://www.ncbi.nlm.nih.gov/pubmed/?term=27613521%5Bpmid%5D)
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1. [Krishnan A et al: Cross-sectional imaging review of tuberous sclerosis. Radiol Clin North Am. 54(3):423-40, 2016](http://www.ncbi.nlm.nih.gov/pubmed/?term=27153781%5Bpmid%5D)
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1. [Daghistani R et al: MRI characteristics of cerebellar tubers and their longitudinal changes in children with tuberous sclerosis complex. Childs Nerv Syst. 31(1):109-13, 2015](http://www.ncbi.nlm.nih.gov/pubmed/?term=25200047%5Bpmid%5D)
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1. [Manoukian SB et al: Comprehensive imaging manifestations of tuberous sclerosis. AJR Am J Roentgenol. 204(5):933-43, 2015](http://www.ncbi.nlm.nih.gov/pubmed/?term=25905927%5Bpmid%5D)
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1. [Kothare SV et al: Severity of manifestations in tuberous sclerosis complex in relation to genotype. Epilepsia. 55(7):1025-9, 2014](http://www.ncbi.nlm.nih.gov/pubmed/?term=24917535%5Bpmid%5D)
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1. [Ouyang T et al: Subependymal giant cell astrocytoma: current concepts, management, and future directions. Childs Nerv Syst. 30(4):561-70, 2014](http://www.ncbi.nlm.nih.gov/pubmed/?term=24549759%5Bpmid%5D)
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1. [Boronat S et al: Intracranial arteriopathy in tuberous sclerosis complex. J Child Neurol. 29(7):912-9, 2013](http://www.ncbi.nlm.nih.gov/pubmed/?term=24056157%5Bpmid%5D)
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1. [Kadom N et al: Utility of magnetization transfer T1 imaging in children with seizures. AJNR Am J Neuroradiol. 34(4):895-8, 2013](http://www.ncbi.nlm.nih.gov/pubmed/?term=23153867%5Bpmid%5D)
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1. [Krsek P et al: Predictors of seizure-free outcome after epilepsy surgery for pediatric tuberous sclerosis complex. Epilepsia. 54(11):1913-21, 2013](http://www.ncbi.nlm.nih.gov/pubmed/?term=24117179%5Bpmid%5D)
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1. [Pascual-Castroviejo I et al: Significance of tuber size for complications of tuberous sclerosis complex. Neurologia. 28(9):550-7, 2013](http://www.ncbi.nlm.nih.gov/pubmed/?term=23274119%5Bpmid%5D)
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1. [Cepeda C et al: Comparative study of cellular and synaptic abnormalities in brain tissue samples from pediatric tuberous sclerosis complex and cortical dysplasia type II. Epilepsia. 51 Suppl 3:160-5, 2010](http://www.ncbi.nlm.nih.gov/pubmed/?term=20618424%5Bpmid%5D)
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1. [Krueger DA et al: Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis. N Engl J Med. 363(19):1801-11, 2010](http://www.ncbi.nlm.nih.gov/pubmed/?term=21047224%5Bpmid%5D)
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1. [Kalantari BN et al: Neuroimaging of tuberous sclerosis: spectrum of pathologic findings and frontiers in imaging. AJR Am J Roentgenol. 190(5):W304-9, 2008](http://www.ncbi.nlm.nih.gov/pubmed/?term=18430816%5Bpmid%5D)
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1. [Karadag D et al: Diffusion tensor imaging in children and adolescents with tuberous sclerosis. Pediatr Radiol. 2005](http://www.ncbi.nlm.nih.gov/pubmed/?term=16170442%5Bpmid%5D)
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1. [Jansen FE et al: Diffusion-weighted magnetic resonance imaging and identification of the epileptogenic tuber in patients with tuberous sclerosis. Arch Neurol. 60(11):1580-4, 2003](http://www.ncbi.nlm.nih.gov/pubmed/?term=14623730%5Bpmid%5D)
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## Images
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### Selected Images
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*Axial FLAIR MR in a 6-year-old boy with tuberous sclerosis complex (TSC) shows a moderate to severe burden of cerebral tubers and right subependymal giant cell astrocytoma (SEGA) <img src='img/arrows/CO.png'/>. Cystic change is seen in a left parietal lobe tuber <img src='img/arrows/CS.png'/>. Tubers are dysplastic lesions that are present in nearly all patients with TSC.*
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*Axial FLAIR MR in a 6-year-old boy with tuberous sclerosis complex (TSC) shows a moderate to severe burden of cerebral tubers and right subependymal giant cell astrocytoma (SEGA) <img src='img/arrows/CO.png'/>. Cystic change is seen in a left parietal lobe tuber <img src='img/arrows/CS.png'/>. Tubers are dysplastic lesions that are present in nearly all patients with TSC.*
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*Axial T1 C+ MR in a 9-year-old girl with TSC shows a lobular, homogeneously enhancing mass <img src='img/arrows/CS.png'/> in the left caudothalamic groove, consistent with a SEGA. Note the subependymal nodule <img src='img/arrows/CO.png'/>.*
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*Axial T1 C+ MR in a 4-year-old boy shows a wedge-shaped, enhancing left cerebellar tuber <img src='img/arrows/CS.png'/>. The majority of cerebellar tubers enhance, in contrast to the supratentorial cerebral hemisphere tubers, which rarely enhance.*
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*Axial NECT in a 23-month-old girl with TSC shows multiple calcified subependymal nodules <img src='img/arrows/WS.png'/>. Note that the location of the nodules adheres to the distribution of fetal germinal matrix with a preponderance in the caudothalamic grooves.*
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*Axial T1 MR in a female infant with TSC at 3 months (left) & 10 months (right) of age shows how the cerebral tubers <img src='img/arrows/CS.png'/> & radial migration lines <img src='img/arrows/CO.png'/> are relatively hyperintense before myelination (left) & relatively hypointense after myelination (right).*
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*Axial T2 MR in the same patient at 3 months (left) & 10 months (right) of age shows how the cerebral tubers are inconspicuous prior to myelination <img src='img/arrows/WS.png'/> (left) but become conspicuous after myelination <img src='img/arrows/CS.png'/> (right).*
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*Axial T2 MR SSFSE of a 36-weeks gestation fetus shows a hypointense subependymal nodule <img src='img/arrows/CO.png'/>. Other non-CNS features confirmed a diagnosis of TSC.*
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*Axial T1 C+ MR in a 4-year-old girl shows a large SEGA <img src='img/arrows/CC.png'/> in the left caudothalamic groove (left). Three months after initiation of an mTOR inhibitor (right), the SEGA <img src='img/arrows/CO.png'/> has substantially decreased in size. mTOR inhibitors are often used as 1st-line therapy for symptomatic SEGAs & have secondary benefits of decreased seizure frequency.*
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*Axial SWI MR in a 4-year-old boy with TSC shows signal loss within a calcified, wedge-shaped cerebellar tuber <img src='img/arrows/CS.png'/>. Approximately 1/3 of all cerebellar tubers are calcified. In contrast to cerebral tubers, which show gyral expansion, cerebellar tubers typically show volume loss.*
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*High-resolution axial T2 TSE MR in a 10-month-old girl with TSC shows small, bilateral retinal contour abnormalities <img src='img/arrows/BS.png'/>, consistent with retinal hamartomas.*
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### Additional Images
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*Axial FLAIR MR in a 3-year-old boy with TSC shows a moderate to severe burden of cerebral tubers. Cystic change is seen in a left parietal lobe tuber <img src='img/arrows/WS.png'/>. FLAIR is the most sensitive sequence for tuber detection. Tubers are dysplastic lesions that are present in nearly all patients with TSC.*
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*Axial T1 C+ MR in the same patient shows a wedge-shaped, enhancing right cerebellar tuber <img src='img/arrows/WC.png'/>. The majority of cerebellar tubers enhance, in contrast to the cerebral tubers, which rarely enhance.*
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*Axial SWI MR in a 9-year-old boy with TSC shows signal loss within a calcified, wedge-shaped cerebellar tuber <img src='img/arrows/BS.png'/>. Approximately 1/3 of all cerebellar tubers are calcified. In contrast to cerebral tubers, which show gyral expansion, cerebellar tubers typically show volume loss.*
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*Axial T1 C+ MR in a 4-year-old girl with TSC shows a lobular, homogeneously enhancing mass <img src='img/arrows/WS.png'/> in the left caudothalamic groove, consistent with a subependymal giant cell astrocytoma.*
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*Axial T1 MR in a 3-month-old girl shows hyperintense radial migration lines <img src='img/arrows/WO.png'/> & cortical/subcortical tubers <img src='img/arrows/WS.png'/>.*
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*Axial T2 MR in a 9-year-old boy with TSC shows a wedge-shaped tuber <img src='img/arrows/WS.png'/> in the right cerebellum. The decreased T2 signal intensity <img src='img/arrows/WC.png'/> suggests associated mineralization.*
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*Axial T2 MR shows a mass-like tuber in the left cerebellum <img src='img/arrows/WS.png'/> in this 11-year-old TSC patient. Infratentorial tubers are much less common than supratentorial ones.*
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*AP catheter angiography with injection of the vertebral artery shows a large mid-basilar aneurysm in a 19-month-old with TSC. Aneurysms are a known, but uncommon, manifestation of this disorder.*
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*MRS shows a characteristic short-echo proton spectroscopy profile of a SEGA with depression of NAA <img src='img/arrows/BS.png'/>, elevation of choline <img src='img/arrows/BC.png'/>, & elevation of myoinositol <img src='img/arrows/BO.png'/>.*
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*Axial T1 C+ MR shows multiple enhancing subependymal nodules in a patient with TSC. Enhancement of these nodules is much easier to discern on MR than CT & does not in itself indicate transformation to a SEGA.*
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*Axial FLAIR MR shows bilateral SEGAs <img src='img/arrows/WS.png'/> at the foramina of Monro that had grown over a 1-year period. These tumors become symptomatic when they cause obstructive hydrocephalus.*
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*Axial FLAIR MR in the same patient 6 months later, after treatment with an mTOR inhibitor, shows a significant decrease in the size of the tumors <img src='img/arrows/WS.png'/>.*
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*Axial NECT shows a calcified lesion <img src='img/arrows/WS.png'/> of the left frontal lobe in a child with TSC. These stable hamartomatous lesions can be excised to treat seizures. Note the subependymal nodules <img src='img/arrows/WC.png'/> in the temporal horns.*
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*Axial FLAIR MR in a 3-year-old shows tubers <img src='img/arrows/WO.png'/>, radial white matter lesions <img src='img/arrows/WS.png'/>, & a subependymal nodule <img src='img/arrows/WC.png'/>. Note the "empty gyri" in the left parietal lobe tuber <img src='img/arrows/BS.png'/>.*
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*Coronal NECT in a 7-year-old girl shows prominent calcifications <img src='img/arrows/WS.png'/> in the subcortical & deep white matter in association with cerebral tubers.*
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*Axial NECT of the left globe shows a calcified retinal lesion <img src='img/arrows/WO.png'/> in a patient with TSC. These hamartomas, sometimes called giant optic drusen, are one of the major criteria for the diagnosis of TSC.*
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*Axial FLAIR MR shows multiple tubers & white matter lesions in a teenager with tuberous sclerosis complex. Note the gyral enlargement & distortion <img src='img/arrows/WC.png'/> of the tubers as well as the radiating, linear white matter abnormalities <img src='img/arrows/WS.png'/> that track centrally toward the ventricles.*
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*Axial NECT in this 1-year-old boy with TSC shows a large hamartomatous lesion <img src='img/arrows/WC.png'/> in the right frontal lobe with overlying cortical malformation, extensive calcification, & volume loss.*
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*Axial T2 FS MR in this 1-year-old boy with TSC shows a large hamartomatous lesion <img src='img/arrows/BC.png'/> in the right frontal lobe with overlying cortical malformation, extensive calcification, & volume loss.*
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