%0 Journal Article
%T Leucoencefalopat¨ªa megalencef¨¢lica con quistes subcorticales (enfermedad de Van der Knaap) Megalencephalic leukoencephalopathy with subcortical cysts (Van der Knapp disease)
%A Hugo Hern¨¢n Abarca Barriga
%A Mar¨ªa del Carmen Castro Mujica
%A Bertha Elena Gallardo Jugo
%J Revista Cubana de Pediatr£¿-a
%D 2013
%I Editorial Ciencias M¨¦dicas
%X La leucoencefalopat¨ªa megalencef¨¢lica con quistes subcorticales es un desorden gen¨¦tico autos¨®mico recesivo, debido a mutaciones en los genes megalencephalic leukoencephalopathy with subcortical cyst 1 (MLC1) o hepatocyte cell adhesion molecule (HEPACAM). Esta enfermedad de la sustancia blanca se caracteriza por macrocefalia de inicio temprano, deterioro motor y mental progresivo, ataxia y crisis epil¨¦pticas. La resonancia magn¨¦tica nuclear muestra edema, compromiso difuso de la sustancia blanca y quistes subcorticales frontotemporales. Se presenta el primer caso reportado en Per¨², de una ni a con hallazgos cl¨ªnicos y de la resonancia magn¨¦tica nuclear t¨ªpicos, con mutaciones heterocigotas en el gen MLC1. Megalencephalic leukoencephalopathy with subcortical cysts is a recessive autosomal genetic disorder, due to mutations in the gen megaloencephalic leukoencephalopathy with subcortical cyst 1 (MLC1) or hepatocyst cell adhesion molecule (HEPACAM). This white matter disease is characterized by macroencephaly of early onset, progressive motor or mental deterioration, ataxia and epileptic crises. Magnetic resonance imaging shows edema, diffuse compromise of the white matter and frontotemporal subcortical cysts. Here is the first case reported in Peru; it is a girl with clinical findings and typical findings disclosed in the nuclear magnetic resonance imaging in addition to heterocygotic mutations in the gen MLC1.
%K leucoencefalopat¨ªa megalencef¨¢lica con quistes subcorticales
%K enfermedad de Van der Knaap
%K gen MLC1
%K megalencephalic leukoencephalopathy with subcortical cysts
%K van der Knapp disease
%K gen MLC1
%U http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0034-75312013000100010