Van der Knaap's vacuolating leukoencephalopathy: two additional cases.
We present two new cases with infantile-onset megalencephaly and a characteristic magnetic resonance imaging (MRI) pattern including severe white-matter abnormalities and subcortical cysts. In one of the patients MRI at the early age of 9 months showed pronounced white matter swelling. In another patient the swelling of white matter was less pronounced at 12 years of age.
Thelle
T
T
Department of Pediatrics, Viborg Hospital, Viborg, Denmark.
Balslev
T
T
Christensen
T
T
D001929:Brain Edema / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D017825:Canavan Disease / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D002540:Cerebral Cortex / Q000473:pathology; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003560:Cysts / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005500:Follow-Up Studies; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D014057:Tomography, X-Ray Computed; D014617:Vacuoles / Q000473:pathology