Lethal familial fetal akinesia sequence (FAS) with distinct neuropathological pattern: type III lissencephaly syndrome.
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.
Encha Razavi
F
F
Service Histo-Embryologie, Hôpital Henri Mondor, Créteil, France.
Larroche
J C
JC
Roume
J
J
Gonzales
M
M
Kondo
H C
HC
Mulliez
N
N
D000015:Abnormalities, Multiple; D001921:Brain / Q000002:abnormalities* / Q000196:embryology; D001929:Brain Edema / Q000196:embryology; D005260:Female; D005333:Fetus / Q000002:abnormalities*; D006801:Humans; D008297:Male; D013577:Syndrome