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



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Phakomatoses

MRI

  • T1 - signal of affected region largely normal, with anatomic volume loss evident at older age

  • T1 C+ (Gd) 

    • prominent leptomeningeal enhancement in affected area

    • much later in life the angioma may 'burn out' losing enhancement 1

    • enlarged ipsilateral choroid plexus

  • T2 - low signal in white matter subjacent to angioma representing

    • postulated accelerated myelination in neonate 1

    • calcification later in life

    • abnormal deep venous drainage seen as flow voids

  • GE / SWI / EPI - sensitive to calcification, seen as regions of signal drop out


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