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About Polymicrogyria

Polymicrogyria (PMG) is a rare brain disorder. PMG is a disorder of neuronal migration resulting in structurally abnormal cerebral hemispheres. The name Polymicrogyria broken down describes its characteristics "many small folds in the surface of the brain". It is also characterized by shallow sulci, a slightly thicker cortex, neuronal heterotopia and enlarged ventricles. When many of these small folds are packed tightly together, PMG may resemble pachygyria (a few "thick folds" - a mild form of lissencephaly) in parts of the brain.

The brains surface normally has gyri which give it a wiggly appearance, but in PMG there are many small wiggles that can be difficult to see on an MRI or CT scan, even for an experienced radiologist. The diagnosis of PMG is merely descriptive and is not a disease in itself nor does it describe the underlying aetiology or cause of the brain malformation. 
There are frequent associations with other brain malformations, including abnormalities of the corpus callosum, white matter and cerebellum.

PMG is not lissencephaly, but is often included because of the similarity in brain scan appearance on poorer quality scans and because many of the symptoms are similar.

Most children with polymicrogyria, but not all, have some degree of global developmental disabilities or delays, seizures, feeding difficulties, respiratory problems, motor dysfunction and mental retardation. It is difficult to make a predictable prognosis for children with the diagnosis of PMG because each child is very unique in their presentation of this disorder.

PMG results from several different causes that are both genetic and non-genetic in nature as follows:

  • a genetic disorder (sometimes inherited, but mainly sporadic);
  • viral infections of the baby during the 2nd trimester (i.e. cytomegalovirus infection);
  • insufficient blood supply to the baby's brain during the 2nd trimester (i.e. umbilical cord entanglement) including twin-to-twin transfusion syndrome;
  • other causes which have not yet been identified. 

There are several forms of PMG the mildest form, unilateral focal polymicrogyria, may have minimal neurologic manifestations. In more severe forms, focal, motor, sensory, visual, or cognitive problems may be present, depending on the brain region affected. In the most widespread form, bilateral generalized polymicrogyria, severe mental retardation, cerebral palsy, and refractory epilepsy may be present.  The form of PMG that Mason has is called bilateral frontoparietal polymicrogyria. 

Research is ongoing into PMG, both in identifying the different types and in the understanding of the underlying causes.

The primary research on Polymicrogyria is being done at the Christopher A. Walsh Laboratory.  Click on the following link  more information on the research being done.

http://www.walshlab.org/pi_poly.html

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