Polymicrogyria

Polymicrogyria (PMG) is a rare neurological condition.  What makes Chiara’s condition so unique, is that she has one of the rarest forms of the condition: Bilateral Perisylvian Polymicrogyria. Further to this Chiara also has Microcephaly, charecterised by a smaller sized head. Together these two conditions make Chiara’s prognosis a lot more severe.

As a result of Chiara’s brain-injury, she also suffers from:

• Spastic Quadraplegic Cererbal Palsy 
• Global Developmental Delay

What is Polymicrogyria?

poly=many | micro=small | gyria=folds within the brain

Polymicrogyria (PMG) ‘many very small folds/wrinkles in the brain’ a rare neurological condition. It is characterised by abnormal development of the brain before birth. The surface of the brain normally has many ridges or folds, called gyri. In people with polymicrogyria, the brain develops too many folds, and the folds are unusually small. The name of this condition literally means too many (poly-) small (micro-) folds (-gyria) in the surface of the brain.

Polymicrogyria can affect any part of the brain or the whole brain. When the condition affects one side of the brain, researchers describe it as unilateral. When it affects both sides of the brain, it is described as bilateral. The signs and symptoms associated with polymicrogyria depend on how much of the brain, and which particular brain regions, are affected. Bilateral (Chiara’s type) is more severe than unilateral. Polymicrogyria causes  problems with the bodies ability to function properly. Severe intellectual disability, cerebral palsy, and epilepsy are also associated with the condition, as well as swallowing and speech difficulties, muscle coordination and seizures.

 

What is the prognosis?

The prognosis for children with Polymicrogyria depend on how much of the brain, and which particular brain regions, are affected. Bilateral is more severe than unilateral and can often lead to early childhood death. The major cases of death are associated with respiratory disease, aspiration or seizures. Those that survive, will often be left with severe physical, physiological and neurological issues.

What is the treatment?

There is no cure for Polymicrogyra. Generally there’s no treatment for polymicrogyria, but early intervention with supportive therapies, such as speech, occupational therapies and other neurological therapies, may help enhance the child’s development and improve quality of life.

What is the cause?

The exact cause  is not completely understood. Associated symptoms and findings are believed to be due to improper development of the outer surface of the brain (cerebral cortex) during embryonic growth. The cerebral cortex, which is responsible for conscious movement and thought, normally consists of several deep folds (gyri) and grooves (sulci). However, in cases of Polymicrogyria, newly developed embryonic cells (neuroblasts) fail to migrate to their destined locations in the outer portion of the brain (neuronal dysmigration). As a result, the cerebral cortex does not develop the normal number of cellular layers, and the deep grooves (sulci) that normally develop on the sides (lateral) of both cerebral hemispheres (sylvian fissures or sulcus lateralis cerebri) may form improperly, resulting in an abnormally increased number of folds (gyri) that are unusually small (bilateral perisylvian polymicrogyria).

To date, Chiara’s Polymicrogryria has been linked to a stoke in-utero. However, genetic testing is still ongoing to determine any other possible causes. Some researchers suggest that the condition may potentially be due to an underlying genetic abnormality that may have autosomal recessive inheritance. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.

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What is Microcephaly?

micro=small | cephaly=head

Microcephaly (my-kroh-SEF-uh-lee) is a rare neurological condition in which an infant’s head is significantly smaller than the heads of other children of the same age and sex. Sometimes detected at birth, microcephaly usually is the result of the brain developing abnormally prior to birth.

What is the prognosis?

In general, life expectancy for individuals with microcephaly is reduced and the prognosis for normal brain function is poor. The prognosis varies depending on the presence of associated abnormalities.

What is the treatment?

There is no cure for Microcephaly. Generally there’s no treatment, but early intervention with supportive therapies, such as speech, occupational therapies and other neurological therapies, may help enhance the child’s development and improve quality of life.

What is the cause?

Microcephaly usually is the result of abnormal brain development, which can occur in the womb (congenital) or during infancy. Microcephaly may be genetic.