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Re: pachygyria

Posted by bigbertha on February 24, 1999, at 9:33:37

In reply to CONFUSED WITH NEURO-PHYS. DIAG., posted by STEVE on February 23, 1999, at 14:56:31

I found these abstracts at NIH's Medline (Infotrieve).
Use your browser for "medline" and clic on Infotrieve.
I believe that it is a genetic disorder that prevents
optimal development of neurons during fetal gestation.
Hope this helps and God bless your family.

Abstract 1
Pachygyria is a rare development disorder resulting from impaired neuronal migration. Usually, it
is a sporadic phenomenon, but rare dominant or autosomal recessive syndromes are known.
This report describes a family in which the parents are first cousins and three of the siblings suffer
from moderate mental retardation, pachygyria and strabismus. It is suggested that this is a
distinct type of autosomal recessive pachygyria.

Abstract 2
We report three neonates, one boy and two girls, born to an inbred Arab family who had cortical
dysplasia, probably agyria-pachygyria, and agenesis of the corpus callosum. All had asphyxia,
intractable seizures, and increased muscle tone at birth and died in the neonatal period.
Congenital microcephaly or dysmorphic features were absent. Cytogenetic abnormality,
metabolic disorder, and intrauterine infection were excluded. These cases suggest a new
cerebral dysgenesis syndrome with autosomal recessive inheritance.




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