81 years old female patient
Clinical symptoms: Epileptic seizures and mild cognitive decline
Brain MRI: White mater Ectopias
Clinical symptoms: Epileptic seizures and mild cognitive decline
Brain MRI: White mater Ectopias
Neuronal
migration disorder (NMD) refers to a heterogenous group of disorders that, it is supposed, share
the same etiopathological mechanism: a variable degree of disruption in the
migration of neuroblasts during neurogenesis. The neuronal
migration disorders
are cerebral dysgenesis, brain malformations caused by primary
alterations during neurogenesis; on the other hand, brain malformations are
highly diverse and refer to any insult to the brain during its formation and
maturation due to intrinsic or extrinsic causes that ultimately will alter the
normal brain anatomy. However, there is some controversy in the terminology
because virtually any malformation will involve neuroblast migration, either
primarily or secondarily.
More than 25 syndromes resulting from abnormal neuronal migration have been
described. Among them are syndromes with several different patterns of inheritance;
genetic
counseling thus differs greatly between
syndromes.
- Lissencephaly
- Schizencephaly
- Porencephaly
- Pachygyria
- Polymicrogyria
- Agyria
- Macrogyria
- Microgyria
- Micropolygyria
- Neuronal heterotopias
- Agenesis of the corpus callosum
- Agenesis of the cranial nerves
- Band heterotopias
Focal cortical
dysplasia. Miller-Dieker
syndrome, muscle-brain-eye syndrome, Fukuyama congenital muscular dystrophy and Walker
Warburg syndrome are genetic disorders
associated with lissencephaly.





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