TUBEROUS SCLEROSIS

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.



Axial FLAIR image of brain:
Small subependymal nodule abutting the body of right lateral ventricle.
Large white matter cyst on left frontal periventricular location.



Axial T1 wt image of brain:
Small subependymal nodule abutting the body of right lateral ventricle.
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	Minor features
·          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	·          Dental pits ·          Hamartomatous rectal polyps ·          Bone cysts ·          Radial glial lines ·          Gingival fibromas ·          Nonrenal hamartoma ·          Retinal achromic patch ·          Multiple renal cysts ·          “Confetti” skin lesions

·          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.