Tuberous sclerosis with open lipped schizencephaly.
Tuberous sclerosis is a multisystem disorder that is transmitted in an autosomal dominant fashion. It affects approximately 1 in 10,000 live births. A growing body of evidence implicates a defect of cell maturation and migration in the pathogenesis of many of the lesions in tuberous sclerosis affecting the central nervous system. There have been numerous case reports of various abnormalities of neuronal migration associated with tuberous sclerosis. To our knowledge, there has only been one case of schizencephaly reported in a patient with tuberous sclerosis. The present report describes a male with tuberous sclerosis and an extensive open lipped schizencephalic cleft affecting his right frontoparietal lobe. This case supports the hypothesis that the cerebral lesions in tuberous sclerosis are secondary to a defect in neuronal maturation and migration.
Huntsman
Richard J
RJ
Division of Pediatric Neurology, University of Alberta, Alberta, Canada.
Sinclair
D Barry
DB
Richer
Lawrence P
LP
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002455:Cell Division / Q000235:genetics; D002465:Cell Movement / Q000235:genetics; D002552:Cerebral Ventricles / Q000002:abnormalities* / Q000473:pathology; D005260:Female; D005500:Follow-Up Studies; D005625:Frontal Lobe / Q000002:abnormalities* / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007235:Infant, Premature, Diseases / Q000175:diagnosis* / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D009474:Neurons / Q000473:pathology; D010296:Parietal Lobe / Q000002:abnormalities / Q000473:pathology; D011247:Pregnancy; D013036:Spasms, Infantile / Q000175:diagnosis / Q000235:genetics*; D014057:Tomography, X-Ray Computed; D014402:Tuberous Sclerosis / Q000175:diagnosis* / Q000235:genetics; D016216:Ultrasonography, Prenatal