Syndromes with lissencephaly. I: Millerdieker and Norman‐Roberts syndromes and isolated lissencephaly
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Lissencephaly (smooth-brain) is an abnormality of brain development characterized by incomplete neuronal migration and a smooth cerebral surface. At least 2, and possibly more, distinct pathological types occur, each associated with several distinct syndromes. In this paper, the manifestations of 3 disorders associated with type I (classical) lissencephaly are discussed, including the Miller-Dieker syndrome with or without deficiency of 17p13, Norman-Roberts syndrome, and isolated lissencephaly sequence.Keywords:
Abnormality
Lissencephaly is a malformation of cortical development associated with deficient neuronal migration and abnormal formation of cerebral convolutions or gyri. The lissencephaly spectrum consists of agyria, pachygyria, and subcortical band heterotopia. At least 19 genes have been identified in the causation of lissencephaly and related syndrome. Lissencephaly is associated with many other congenital disorders but the association of lissencephaly with congenital hypothyroidism is rarely reported. We report a case of a 10-year-old girl having lissencephaly with congenital hypothyroidism. Early diagnosis of lissencephaly and genetic counselling can be made in suspected cases and further possible interventions can be taken. Also, regular follow-up, monitoring, and better conservative management lead to a better prognosis.
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A case with lissencephaly (agyria) syndrome is described. This brain development defect must be included in the differential diagnosis of all infants with delayed motor development and congenital malformations and convulsions, especially of the infantile spasms kind. It is important to consider chromosomal studies in each of them and to offer genetic counseling to the parents.
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Background: Classical lissencephaly or "smooth brain" is a human brain malformation that consists of diffuse agyria and pachygyria. Two genes associated with classical lissencephaly have recently been cloned—LIS1 from chromosome 17p13.3 and XLIS (also called DCX) from Xq22.3-q23. Objective: We performed genotype-phenotype analysis in children with lissencephaly associated with mutations of different genes. Methods: We compared the phenotype, especially brain imaging studies, in a series of 48 children with lissencephaly, including 12 with Miller-Dieker syndrome (MDS), which is associated with large deletions of LIS1 and other genes in the region, 24 with isolated lissencephaly sequence caused by smaller LIS1 deletions or mutations, and 12 with isolated lissencephaly sequence caused by XLIS mutations. Results: We found consistent differences in the gyral patterns, with the malformation more severe posteriorly in individuals with LIS1 mutations and more severe anteriorly in individuals with XLIS mutations. Thus, mutations of LIS1 are associated with a posterior-to-anterior gradient of lissencephaly, whereas mutations of XLIS are associated with an anterior-to-posterior gradient. We also confirmed differences in severity between MDS and ILS17. Hypoplasia of the cerebellar vermis proved to be more common with XLIS mutations. Conclusion: It is often possible to predict the gene mutation from careful review of brain imaging studies.
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Lissencephaly (smooth brain) is a severe malformation of neuronal migration with a relatively smooth cerebral surface, thick and poorly organized cortex, and clinical signs of severe neurologic dysfunction. Subcortical band heterotopia is part of the lissencephaly malformation spectrum now referred to as the agyriapachygyria-band spectrum. Chromosome 17-linked lissencephaly (patients with Miller-Dieker syndrome) have classical lissencephaly, characteristic facial features, and perhaps other associated birth defects. The critical region for the lissencephaly phenotype has been mapped to 17 p 13.3, but the identity of the chromosome 17 lissencephaly gene remains unknown. The gene responsible for X-linked lissencephaly has been mapped to Xq22.3. Autosomal recessive classical lissencephaly is thought to exist, although it is considered rare. © 1996 Wiley-Liss, Inc.
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Migration of post-mitotic neurons from the ventricular zone to the cortical plate during embryogenesis comprises one of the most critical stages in brain development. Deficiency of this process often results in major brain malformations, including human lissencephaly (smooth brain). Since discovery of the first genetic cause of lissencephaly, deletions of chromosome 17p13.3 in Miller–Dieker syndrome, rapid progress in our understanding of neuronal migration has been made based on advances in both brain imaging technology and molecular genetics. This progress has resulted in a new system of classification that began with pathological descriptions and has evolved to include patterns on brain imaging, causative genes and most recently the molecular pathways and proposed modes of migration involved. In this review, we summarize current knowledge regarding five genes that cause or contribute to human lissencephaly, including LIS1, 14-3-3ε, DCX, RELN and ARX. Each of these is associated with a characteristic pattern of malformation that involves the cerebral cortex and sometimes other brain structures. Based on detailed genotype–phenotype analysis, we can now infer the most likely causative gene based on brain imaging and other clinical findings, and inversely are becoming able to predict clinical severity based on the specific mutations detected. We also hypothesize, for the first time, a relationship between the specific type of lissencephaly observed and deficiency of specific modes of neuronal migration.
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Malformations of cortical development include a wide range of anomalies that commonly lead to developmental delay and epilepsy. Lissencephaly, literally “smooth brain,” is a rare genetic brain malformation characterized by the absence of normal convolutions (folds) in the cerebral cortex. A
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Lissencephaly (smooth-brain) is an abnormality of brain development characterized by incomplete neuronal migration and a smooth cerebral surface. At least 2, and possibly more, distinct pathological types occur, each associated with several distinct syndromes. In this paper, the manifestations of 3 disorders associated with type I (classical) lissencephaly are discussed, including the Miller-Dieker syndrome with or without deficiency of 17p13, Norman-Roberts syndrome, and isolated lissencephaly sequence.
Abnormality
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Lissencephaly is a neural disorder characterized by lack of sulcations in the brain. In lissencephaly, the normal migration of the neuron does not occur due to an insult to the fetus early in gestation. This causes a “smooth brain” appearance. Lissencephaly is associated with syndromes such as Walker-Warburg and Miller-Dieker syndromes. Sonographic findings of lissencephaly include agenesis of the corpus collosum, dilated third ventricle, and lack of sulcations. Patients diagnosed with lissencephaly do not usually de-velop intellectually past the three- to five-month age level.
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