“ Autosomal dominant inheritance. The main feature is multi-organ hamartomas (brain, lung, skin, kidneys and heart). Classic clinical tri...
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Autosomal dominant inheritance. The main feature is multi-organ hamartomas (brain, lung, skin, kidneys and heart).
Classic clinical triad in less than 50%:
(1) facial angiofibroma;(2) seizures; and(3) learning disability.
Multidisciplinary management, work-up with brain MRI, renal US and cardiac echo.
Apart from the CNS abnormalities, look for:
• Cardiac/chest: lung cysts, spontaneous pneumothorax, chylothorax and cardiac rhabdomyoma
• Renal: multiple angiomyolipoma (may be large and bleed), renal cysts and increased risk of renal cell carcinoma
• Skin: adenoma sebaceum, shagreen patches and subungual fibrosis
• Bones: multiple bone islands
MRI
• 95% have a subependymal hamartoma (slow enhancement), these are often calcified (especially in those age >10 years) and protrude into the lateral ventricles; they are high signal on T2.
• Ventriculomegaly.
• Hamartomas may degenerate into subependymal giant cell astrocytomas: cystic and typically found near the foramen of Monro (differential is colloid cyst). May obstruct or show malignant change.
• Broadened gyri, curvilinear calcification and heterotopic grey matter are also features.
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