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