The spectrum of type III lissencephaly: a clinicopathological update
| Autor: | Alixe Clémenson, Fabienne Allias, Jocelyne Attia-Sobol, Raymonde Bouvier, Frédérique Dijoud, Annie Buenerd, Férechté Encha-Razavi |
|---|---|
| Rok vydání: | 2005 |
| Předmět: |
Adult
Male Polyhydramnios Pathology medicine.medical_specialty Time Factors Lissencephaly Apoptosis Gestational Age Disease Biology Nervous System Malformations Ultrasonography Prenatal Pathology and Forensic Medicine Craniofacial Abnormalities Atrophy Pregnancy medicine Neu-Laxova syndrome Humans Abnormalities Multiple Pathological Retrospective Studies Arthrogryposis Neurons Fetal Growth Retardation Genetic heterogeneity Macrophages X-Rays Neurodegeneration Brain Neurodegenerative Diseases General Medicine Syndrome medicine.disease Micrencephaly Phenotype Karyotyping Pediatrics Perinatology and Child Health Female |
| Zdroj: | Fetal and pediatric pathology. 23(5-6) |
| ISSN: | 1551-3815 |
| Popis: | A third type of lissencephaly that does not fufil diagnostic criteria of type I ("classical") and type II ("cobblestone") lissencephaly was described by our group as a new entity identified as OMIM 601160. 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 OMIM 601160 and NLS raise the question of clinicopathological variability and genetic heterogeneity of type III lissencephaly. To answer this question, we compared our clinicopathological findings in a series of fetuses with OMIM 601160 to pathological data reported in NLS. In the study, 5 unrelated families with 7 affected fetuses were included. Interestingly, we found striking clinicopathological similarities between OMIM 601160 and NLS, which may represent a variability of a single neurodegenerative disease with early prenatal onset. Molecular studies in multiplex families defined through detailed clinicopathological screening are needed to clarify the distinction, if any, between these two entities. |
| Databáze: | OpenAIRE |
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