Leukoencephalopathies with subcortical cysts

Leukoencephalopathies comprise a large number of clinical entities featured by white matter development disorder with various etiology. Owing to the wide implementation of neuroimaging diagnostic techniques (MRI) and better defined clinical criteria, it is possible to differentiate a group of leukoencephalopathies with subcortical cysts. In the latter, on the basis of precisely defined morphologic criteria based on MRI and clinical criteria including dynamics of head circumference growth, it is possible to separate a few distinct entities of leukoencephalopathy with subcortical cysts, also etiologicaly heterogeneous: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) (van der Knaap et al. 1995). Cystic leukoencephalopathy without megalencephaly (Henneke et al 2005) and cystic leukoencephalopathy in congenital citomegalovirus (CMV) infection (Gomes et al 2001, van der Knaap et al 2004). We present 11 of our patients diagnosed with MLC, one patient with cystic leukoencephalopathy without megalencephaly and three with proven cystic leukoencephalopathy in congenital citomegalovirus infection. Our patients with MLC showed a wide variety of clinical and morphologic features of this disease, while the patients with congenital CMV infection had multiple neurodevelopmental disorders along with sensorineural deafness and autistic features of communication disorders in two cases. Although these diseases are considered rare, the diagnostic procedure starts at the level of primary healthcare and it is necessary to identify them as soon as possible in order to refer them to an institution which has access to the required diagnostics and international collaboration.