Wednesday 6 June 2012

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.
 

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