Cystic leukoencephalopathy without megalencephaly

Discussion:

The findings of this rare condition are bilateral temporal lobe cysts combined with a specific pattern of multifocal white matter lesions and normocephaly.

The differential diagnosis of cystic lesions of the temporal lobe are:

  • with microcephaly: congenital CMV infection
  • normocephaly: cystic leukoencephalopathy without megalencephaly, congenital muscular dystrophy merosin negative, Aicardi-Goutieres syndrome
  • with megalencephaly: megalencephalic leukoencephalopathy with subcortical cysts (also known as Van der Knaap disease).

other differential diagnoses to include:

  • leukoencephalopathy with vanishing white matter (Vanishing white matter disease)
  • childhood ataxia with central nervous system hypomyelination
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