Leukoencephalopaties with subcortical cysts

Leukoencefalopatije obuhvaćaju veliki broj kliničkih entiteta čije je glavno obilježje poremećaj u građi bijele tvari mozga različite etiologije. Zahvaljujući sve široj primjeni dijagnostike slikovnog prikaza magnetskom rezonancijom (MRI) te bolje definiranim kliničkim kriterijima, moguće je izdvojiti skupinu leukoencefalopatija sa subkortikalnim cistama. U ovoj posljednjoj skupini encefalopatija moguće je zasad na temelju precizno definiranih morfoloških kriterija na osnovi MRI-a te kliničkih kriterija, uključujući i dinamiku rasta opsega glave, izdvojiti nekoliko zasebnih entiteta leukoencefalopatija sa subkortikalnim cistama koje su također etiološki heterogene: megalencefalična leukoencefalopatija sa subkortikalnim cistama MLC (v a n d e r K n a a p i s u r. 1995.) cistična leukoencefalopatija bez megalencefalije (H e n n e k e i s u r. 2005.). cistična leukoencefalopatija u kongenitalnoj citomegalovirus (CMV) infekciji (G o m e s i s u r. 2004., V a n d e r K n a a p i s u r. 2004). Prikazujemo 11-ero bolesnika s MLC-om, te bolesnika sa cističnom leukoencefalopatijom bez megalencefalije, koji je ujedno jedan od 15-ero opisanih bolesnika s ovom bolešću i svijetu te tri bolesnice s dokazanom kongenitalnom CMV infekcijom. Naši bolesnici s MLC-om pokazali su veliku varijabilnost kliničkih i morfoloških (MRI) kriterija ove bolesti dok su bolesnice s kongenitalnom CMV infekcijom uz zamjedbenu gluhoću imale i višestruka neurorazvojna odstupanja, od kojih dvije bolesnice i autistična obilježja poremećaja komunikacije. Iako su navedene bolesti rijetke, njihova dijagnostika počinje na razini primarne zdravstvene zašite te ih je potrebno što prije prepoznati i uputiti u ustanovu koja raspolaže potrebnom dijagnostikom i mogućnostima međunarodne suradnje.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