Siblings with development delay, mild spasticity and subcortical cysts: a further leukoencephalopathy?

We present a family with mild neurological symptoms and intra-cerebral subcortical cysts on magnetic resonance imaging (MRI). Common clinical features are microcephaly, learning difficulties, spasticity, dyspraxia and restricted movements of the neck and shoulder. The family has features in common with vacuolating leukoencephalopathy of van de Knaap and Olivier and may represent a new variant.