[Lissencephalia syndromes].
Lissencephaly is in most cases a genetic anomaly of the brain development with agyria and/or pachygyria. It causes severe psychomotor retardation and epilepsy, which is often resistant to therapy. Some patients with type-I lissencephaly show cranial and facial dysmorphism and a deletion of chromosome 17p13.3 (Miller-Dieker syndrome). The isolated lissencephaly sequence occurs without these features. Patients with type-II lissencephaly present additional malformations of the posterior fossa and of the eyes (Walker-Warburg syndrome) and in some cases muscular dystrophy (cerebro-oculomuscular syndrome). Lissencephaly can be suspected with a high probability by its typical EEG. It is proved by imaging techniques. Therapeutic success is limited, the life expectancy is strongly reduced.
Bode
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Universitäts-Kinderspital, Basel.
Bubl
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D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002886:Chromosomes, Human, Pair 17; D003952:Diagnostic Imaging; D004569:Electroencephalography; D004827:Epilepsy / Q000209:etiology; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology; D008297:Male; D013577:Syndrome
Lissenzephaliesyndrome.