Tuberous Sclerosis Complex

Axial T1W MR image of a 5-year-old girl demonstrates several T1-hyperintense subependymal nodules arrows).

Coronal FLAIR MR image shows multiple cortical tubers and subcortical white matter hyperintensities (asterisks).

Facts

• Autosomal dominant disorder due to abnormality of TSC1 and TSC2 genes
• Most frequent clinical manifestations are neurologic (myoclonic seizures in early childhood, psychiatric symptoms, retinal hamartomas) and skin (adenomas of sebaceous glands)

Diagnostic Criteria by Tuberous Sclerosis Complex Consensus Conference (Maryland 1998)

Major features

• Facial angiofibromas or forehead plaque
• Nontraumatic ungual or periungual fibroma
• Hypomelanotic macules (more than 3)
• Shagreen patch (connective tissue nevus)
• Cortical tuber
• Subependymal nodule
• Subependymal giant cell astrocytoma
• Multiple retinal nodular hamartomas
• Cardiac rhabdomyoma, single or multiple
• Lymphangiomyomatosis (LAM)
• Renal angiomyolipoma (AML)

Minor features

• Multiple randomly distributed pits in dental enamel
• Hamartomatous rectal polyps
• Bone cysts
• Cerebral white matter "migration tracts"
• Gingival fibromas
• Nonrenal hamartoma
• Retinal achromic patch
• Confetti skin lesions
• Multiple renal cysts

Definite TSC: Either 2 major, or 1 major + 2 minor features

Probable TSC: One major + one minor feature

Possible TSC: Either 1 major, or 2 or more minor features

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Imaging findings are highlighted in red.

When both LAM and renal AML are present, other features should be present as well before definite diagnosis is made. 

Reference:

Roach ES, Sparagana SP. Diagnosis of tuberous sclerosis complex. J Child Neurol 2004;19:643-649. Fulltext