Lissencephaly

Abstract

SUMMARY:The first reported case of lissencephaly resulting from a consanguinous union strengthens the supposition that in some cases, it is transmitted as an autosomal recessive trait. Comparison of this case with a sporadically occuring case of lissencephaly, with different cortical morphology, suggests that lissencephaly may be an example of either varying gene expressivity or gene-tic heterogeneity. Lissencephaly and pachygyria may eventually be shown to be due to different causes, some inherited, some acquired. The classical examples of lissencephaly are different morphologically from a case in which antenatal cytomegalovirus infection had produced a small smooth brain. This suggests that antenatal viral infections are destructive rather than teratogenic.

Rare ACTG1 variants in fetal microlissencephaly

“…MLIS was initially considered as belonging to the vast microcephaly spectrum and was thought to result essentially from abnormal neuronal proliferation or survival (Barth et al, 1982;Dobyns et al, 1984;Norman et al, 1976). Obtaining a genetic diagnosis in patients with MLIS remains challenging.…”

Syndromes with lissencephaly. I: Millerdieker and Norman‐Roberts syndromes and isolated lissencephaly

“…In 1969, Dieker et a1 reported a second family with multiple affected children and proposed that lissencephaly occurred as part of a specific familial "lissencephaly syndrome" with a characteristic facial appearance and autosomal recessive inheritance. Subsequent reports agreed that inheritance was autosomal recessive on the basis of 4, and possibly 5 , families with more than I affected child [Norman et al, 1976;Jellinger and Rett, 1976;Garcia et al, 1978;Toro-Sola et al, 1978;Jones et al, 19801. In one of the families, the parents were known to be consanguineous [Norman et al, 19761.…”

Autosomal recessive type I lissencephaly

“…11 Mortality in this is very high. 8 Both our patients represent LIS 1 as categorized by Dobyns et al 9 features being (a) variable type 1 LIS with normal cerebellum, (b) relatively normal facies and (c) no other consistent pattern of malformation. These patients have severe neurologic sequele, with profound mental retardation, non-specific malformation of cerebellum.…”