Phakomatoses are a group of neurocutaneous disorders characterised by involvement of structures that arise from the embryonic ectoderm (thus central nervous system, skin and eyes). Other organs may also be involved


TSC1: chromosome 9q32-34 TSC2



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Bog'liq
Phakomatoses

TSC1: chromosome 9q32-34

  • TSC2: chromosome 16p13.3 (accounts for most cases)

    Radiographic features

    Tuberous sclerosis has a great number of manifestations, involving many organ systems. The most common manifestations are:



    1. cortical or subependymal tubers and white matter abnormalities

    2. renal angiomyolipomas (AML)

    3. cardiac rhabdomyoma(s)

    Neurological 

    • cortical / subcortical tubers: 50% are in the frontal lobe : high T2 and low T1 with only 10% of tubers showing enhancement

    • subependymal hamartomas

      • 88% are associated with calcification, although calcification absent in early childhood

      • visible within the first 6 months of age 11

      • variable signal, frequently high T1 and iso to high T2

      • enhancement is variable and is not a useful feature in distinguishing them from subependymal giant cell astrocytomas (SGCA); only serial growth is reliable9-10

    • subependymal giant cell astrocytomas (SGCA)

    • white matter abnormalities

    • retinal phakomas

    • rarer findings

      • cerebellar atrophy

      • infarcts (due to vascular occlusive disorders)

      • cerebral aneurysms

      • dysgenesis of the corpus callosum

      • Chiari malformations

      • microcephaly

      • arachnoid cysts

      • chordoma


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