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 affect...

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Bibliographic Details
Published in:Pediatric neurology 2006-03, Vol.34 (3), p.231-234
Main Authors: Huntsman, Richard J., Sinclair, D. Barry, Richer, Lawrence P.
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - diagnosis
Abnormalities, Multiple - genetics
Biological and medical sciences
Cell Division - genetics
Cell Movement - genetics
Cerebral Ventricles - abnormalities
Cerebral Ventricles - pathology
Female
Follow-Up Studies
Frontal Lobe - abnormalities
Frontal Lobe - pathology
Humans
Immunomodulators
Infant
Infant, Newborn
Infant, Premature, Diseases - diagnosis
Infant, Premature, Diseases - genetics
Magnetic Resonance Imaging
Male
Medical sciences
Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis
Neurology
Neurons - pathology
Parietal Lobe - abnormalities
Parietal Lobe - pathology
Pharmacology. Drug treatments
Pregnancy
Spasms, Infantile - diagnosis
Spasms, Infantile - genetics
Tomography, X-Ray Computed
Tuberous Sclerosis - diagnosis
Tuberous Sclerosis - genetics
Ultrasonography, Prenatal
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Summary: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.
ISSN:0887-8994
1873-5150
DOI:10.1016/j.pediatrneurol.2005.08.012