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Lethal familial fetal akinesia sequence (FAS) with distinct neuropathological pattern: type III lissencephaly
F Encha Razavi1, J C Larroche, J Roume
1Service Histo-Embryologie, Hôpital Henri Mondor, Créteil, France.
Abstract:
We report on a distinct pattern of primary central nervous system (CNS) degeneration affecting neuronal survival in the brain and spinal cord in 5 fetuses with fetal akinesia sequence (FAS). This neuropathological pattern is characteristic of a lethal entity that we propose calling type III lissencephaly syndrome. Parental consanguinity and the recurrence in sibs support a genetic cause. The mechanism of neuronal death is not yet understood; abnormal apoptosis and/or deficiency in neurotropic factors may be considered possible causes.
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