Leucoencefalopatía megalencefálica con quistes subcorticales (enfermedad de Van der Knaap) / Megalencephalic leukoencephalopathy with subcortical cysts (Van der Knapp disease)
Rev. cuba. pediatr
;
85(1): 106-111, ene.-mar. 2013.
Article
in Spanish
| LILACS
| ID: lil-671325
RESUMEN
La leucoencefalopatía megalencefálica con quistes subcorticales es un desorden genético autosómico 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 epilépticas. La resonancia magnética nuclear muestra edema, compromiso difuso de la sustancia blanca y quistes subcorticales frontotemporales. Se presenta el primer caso reportado en Perú, de una niña con hallazgos clínicos y de la resonancia magnética nuclear típicos, con mutaciones heterocigotas en el gen MLC1.
ABSTRACT
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.
Full text:
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Index:
LILACS (Americas)
Language:
Spanish
Journal:
Rev. cuba. pediatr
Journal subject:
Pediatrics
Year:
2013
Type:
Article
Affiliation country:
Peru
Institution/Affiliation country:
Instituto Nacional de Enfermedades Neoplásicas/PE
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