An infant with ash-leaf and café au lait spots: a case of double phakomatosis

Acta Neurol Belg. 2017 Mar;117(1):323-324. doi: 10.1007/s13760-016-0638-x. Epub 2016 Apr 4.
No abstract available

Keywords: Ash-leaf macules; Cafe au lait spots; Double phakomatosis; Moyamoya syndrome; Neurofibromatosis 1; Tuberous sclerosis complex.

Publication types

  • Case Reports

MeSH terms

  • Brain / diagnostic imaging
  • Brain / pathology*
  • Cafe-au-Lait Spots / complications*
  • Cafe-au-Lait Spots / diagnostic imaging
  • Cafe-au-Lait Spots / genetics
  • Cafe-au-Lait Spots / pathology*
  • Humans
  • Infant
  • Magnetic Resonance Angiography
  • Magnetic Resonance Imaging
  • Male
  • Mutation / genetics
  • Neurocutaneous Syndromes / complications*
  • Neurocutaneous Syndromes / genetics
  • Neurocutaneous Syndromes / pathology*
  • Tuberous Sclerosis Complex 1 Protein
  • Tumor Suppressor Proteins / genetics

Substances

  • Tuberous Sclerosis Complex 1 Protein
  • Tumor Suppressor Proteins