9 yrs child with mild mental retardation
Axial FLAIR image of brain: Multiple FLAIR cortical and subcortical hyperintensities-s/o Tubers Large white matter cyst on left frontal periventricular location. |
Coronal T2 wt image of brain: Large white matter cyst in left frontal lobe with compression and displacement of left lateral ventricle. |
Major features
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Minor features
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· Facial angiofibroma or forehead plaque Periungual fibroma
· Hypomelanotic macules(more than three)
· Shagreen patch
· Cortical tuber
· Subependymal nodule
· Subependymal giant cell astrocytoma Multiple retinal nodular hamartomas Cardiac rhabdomyoma
· Lymphangiomyomatosis
· Renal angiomyolipoma
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· Dental pits
· Hamartomatous rectal polyps
· Bone cysts
· Radial glial lines
· Gingival fibromas
· Nonrenal hamartoma
· Retinal achromic patch
· Multiple renal cysts
· “Confetti” skin lesions
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· The diagnosis is considered definite in the presence of two major features or one major and two minor features.
· A probable diagnosis of TSC is given if there is one major and one minor feature, and TSC is suspected if a patient has one major feature or two or more minor features.
References :
· The pathogenesis and imaging of the tuberous sclerosis complex. Pediatr Radiol (2008) 38:936–952.
· The radiological appearances of Tuberous sclerosis, British journal of radiology, January 2000.
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