[Megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease)].
A history of the discovery, hypotheses of the pathogenesis, neuromorphologic data, clinical appearances, differential diagnostics and an own description of a single case of rare hereditary children leukoencephalopathy, with megalencephaly, changes of myelin structure and formation of subcortical cysts are presented. Taking into account non-specific clinical appearances of this disease and difficulties of genetic analysis, a priority role of MRI-diagnostics revealing typical signs of the disease is emphasized.
Bembeeva
R Ts
RTs
Serkov
S V
SV
Nankina
I A
IA
Volkova
E Iu
EIu
Shakhbazova
E S
ES
Pronin
I N
IN
D001921:Brain / Q000473:pathology; D020863:Central Nervous System Cysts / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D002648:Child; D015140:Dementia, Vascular / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D003937:Diagnosis, Differential; D038524:Diffusion Magnetic Resonance Imaging; D005071:Evoked Potentials / Q000502:physiology; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics
C425069:MLC1 protein, human; D008565:Membrane Proteins