What is Polymicrogyria anyway?
Polymicrogyira = “Poly” means many, “micro” means very small, and “gyria” is the medical term for the wrinkles in the brain. So we have “many very small wrinkles in the brain”. During the baby’s development in the uterus the nerve cells divide and make up the layers of the brain and make the wrinkles (gyri) of the brain. With PMG, that process is altered and it causes the brain to form improperly. It forms small wrinkles which don’t process the information it receives like a normally formed brain. This causes problems with functioning in the body much like a stroke can affect the brain. Depending on what part of the brain is involved and how severe the deformity is, results in the impairments that we see with PMG.
Polymicrogyria is not a disease. It’s kind of like an umbrella term for a multitude of disorders, all caused by the deformity of the gyria. There are some variations in symptoms and severity with kids of PMG, yet they share some common traits.. they all generally cause developmental delay, feeding problems (which can lead to fatal aspiration) respiratory issues, fine motor dysfunction, seizures (can be life threatening), and mental retardation..
And in Chiara’s case, congenital bilateral perisylvian polymicrogyria (BPP).. it seems to be the most common type and is characteristic of partial paralysis of facial muscles, resulting in speech difficulties and excessive drooling; can lead to feeding issues for baby. It is situated in a deeply grooved area on either side of the brain called sylvan fissure and impairs both the speech areas and those controlling fine motor skills. BPP is sometimes accompanied by cerebral palsy – which causes an even greater loss of control of voluntary muscles and motor skills – and unfortunately Chiara has this too.
Children who have bilateral perisylvian polymicrogyria can develop symptoms at various stages, and varying degrees of severity. Some are profoundly effected, some need a feeding tube, some die in their sleep from a condition similar to apnea… to try and make sense of this crazy situation, I tell myself that the future is uncertain for everyone on this planet, not just Chiara due to her health concerns, but that we all live day to day with no real idea of what lies around the corner. This is the great mystery of life, and it kind of helps me let go a little.. and have faith..
Polymicrogyria Awareness Page – have more detail on the why’s and how’s and is a great resource!
I also started to follow as many blogs, FB pages etc to do with PMG, one to show my support and two, to keep up to date with any new therapies etc ie: stem cell…
** Info from Chiara’s MRI There are both genetic and non-genetic causes known for PMG. A handful of genes have been identified, yet mutations in these genes have only been found to account for -10% of cases of PMG. Rarely PMG may be from metabolic causes such as peroxisomal disorders . Non-genetic causes include congenital CMV infection and hypoxic/ischaemic insults to the developing brain. The likely hemosiderin deposits at the base of the Sylvian fissures, suggest an in utero stroke played a role.
The clinical sequel of BPP (Bilateral Perysylvian Polymicrogyria) are variable. Approx 50% of patients have microcephaly, developmental delay is common, and epileptic seizures are common with onset in first five years. Delays in expressive speech and language, feeding problems. BPP is not progressive or degenerative.