A third type of lissencephaly that does not fufil diagnostic criteria of type I ("classical") and type II ("cobblestone") lissencephaly was described in 1996 as a new entity identified as MIM.601160. Autosomal recessive inheritance.
This lethal familial syndrome comprises micrencephaly/lissencephaly and a spectrum of abnormalities lined to a severe fetal akinesia deformation sequence. Neuropathological findings suggest severe neurodegeneration leading to a marked neuronal dropout of the entire central nervous system and atrophy.
Similar neuropathological findings have been described in the Neu-Laxova syndrome (NLS), an apparently different lethal malformation syndrome.
Neuropathological similarities between MIM.601160 and NLS raise the question of clinicopathological variability and genetic heterogeneity of type III lissencephaly.
Synopsis
primary central nervous system degeneration
fetal akinesia sequence (FAS)
- severe arthrogryposis
cerebral malformations
corpus callosum agenesis
vermis agenesis
pulmonary hypoplasia
polyhydramnios
cerebrospinal anomalies
- smooth brain (lissencephaly)
- hypoplastic brain stem
- cystic cerebellum
- large ventricles
- bilateral multicystic periventricular lesions extending to the basal ganglia
- severe neuronal loss
- agyric brain
- hypoplastic brain stem
- hypoplastic cerebellum
- severe neuronal loss of the cortical plate, matrix zone, basal ganglia, brainstem nuclei and spinal cord
- axonal swelling
- microcalcification
skeletal anomalies
- epiphyseal stippling of cervical vertebrae, feet and sacrum
- shortened metacarpal bones with hypoplastic distal phalanges
- epiphyseal calcifications
- metacarpophalangeal bone dysplasia
Copyright Wiley-Liss. Inc.
See also
References
Attia-Sobol, J.; Encha-Razavi, F.; Hermier, M.; Vitrey, D.; Verloes, A.; Plauchu, H. : Lissencephaly type III, stippled epiphyses and loose, thick skin: a new recessively inherited syndrome. Am. J. Med. Genet. 99: 14-20, 2001. PubMed ID : 11170088
Encha Razavi, F.; Larroche, J. C.; Roume, J.; Gonzales, M.; Kondo, H. C.; Mulliez, N. : Lethal familial fetal akinesia sequence (FAS) with distinct neuropathological pattern: type III lissencephaly syndrome. Am. J. Med. Genet. 62: 16-22, 1996. PubMed ID : 8779318