Magnetic resonance imaging in infantile encephalopathy with cerebral calcification and leukodystrophy.
Three children, one pair of siblings and a sporadic case, with "infantile (familial) encephalopathy with cerebral calcification and leukodystrophy" are reported. Neuroimaging studies demonstrated extensive bilateral calcifications particularly in paraventricular location and within the cerebral white matter. MRI, performed in two infants, confirmed marked white matter involvement with diffuse delay of myelination. This condition can be added to the growing list of leukodystrophies.
Boltshauser
E
E
Children's University Hospital, Zürich, Switzerland.
Steinlin
M
M
Boesch
C
C
Martin
E
E
Schubiger
G
G
D001921:Brain / Q000473:pathology; D001927:Brain Diseases / Q000175:diagnosis / Q000235:genetics*; D002114:Calcinosis / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D025063:Chromosome Disorders; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009186:Myelin Sheath / Q000473:pathology