Leber congenital amaurosis in siblings with diffuse dysmyelination.
Two brothers are described with the previously unrecognized combination of Leber amaurosis and abnormal myelin detected by magnetic resonance imaging. Both have evidence of delayed psychomotor development and one has autistic features. A possible relationship with infantile autism or a peroxisomal dysfunction syndrome is explored. No peroxisomal defect was found in these patients.
Curless
R G
RG
Department of Neurology, University of Miami School of Medicine, Florida.
Flynn
J T
JT
Olsen
K R
KR
Post
M J
MJ
D001321:Autistic Disorder / Q000175:diagnosis / Q000235:genetics; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D025063:Chromosome Disorders; D003711:Demyelinating Diseases / Q000175:diagnosis / Q000235:genetics*; D005500:Follow-Up Studies; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D015418:Optic Atrophies, Hereditary / Q000175:diagnosis / Q000235:genetics*