Polymicrogyria

Polymicrogyria
Classification and external resources
This child presented with seizures. The coronal true inversion recovery sequence shows thickened and disordered cortex in superior frontal and cingulate gyri bilaterally (arrow). There are small convolutions visible at the corticomedullary junction. The appearance is that of cortical dysplasia, with polymicrogyria more likely than pachygyria due to the small convolutions visible. There are also small foci of grey matter signal in the corpus callosum, deep to the dysplastic cortex (double arrows). These probably represent areas of grey matter heterotopia.
ICD-9	742.2
DiseasesDB	33975
MeSH	D054220
GeneReviews	Polymicrogyria Overview

Polymicrogyria (PMG) is a developmental malformation of the human brain characterized by an excessive number of small convolutions (gyri) on the surface of the brain. Either the whole surface (generalized) or parts of the surface (focal) can be affected.

Clinical presentation

The diagnosis of PMG is merely descriptive and is not a disease in itself, nor does it describe the underlying etiology or cause of the brain malformation.

Polymicrogyria may in fact be just one piece of a syndrome of developmental abnormalities, because children born with it may suffer from a wide spectrum of other problems, including: global developmental disabilities, mild to severe mental retardation, motor dysfunctions including speech and swallowing problems, respiratory problems, and seizures. Though it is difficult to make a predictable prognosis for children with the diagnosis of PMG, there are some generalized clinical findings according to the areas of the brain that are affected.

• Bilateral frontal polymicrogyria (BFP)-Cognitive and motor delay, spastic quadriparesis, epilepsy
• Bilateral frontoparietal polymicrogyria (BFPP)-Severe cognitive and motor delay, seizures, dysconjugate gaze, cerebellar dysfunction
• Bilateral perisylvian polymicrogyria (BPP)-Pseudobulbar signs, cognitive impairment, epilepsy, some with arthrogryposis and/or lower motor neuron disease
• Bilateral parasagittal parieto-occipital polymicrogyria (BPPP)-Partial seizures, some with mental retardation
• Bilateral generalized polymicrogyria (BGP)-Cognitive and motor delay of variable severity, seizures

Diagnosis

With increased use of imaging techniques such as MRI and CT, polymicrogyria is becoming more widely diagnosed. However, polymicrogyria is often misdiagnosed as pachygyria or lissencephaly, even by experienced radiologists, since the differences between these conditions can be difficult to see on an MRI or CT scan.

Pathology

Polymicrogyria is a disorder of neuronal migration resulting in structurally abnormal cerebral hemispheres. The Greek roots of the name describe its salient feature: many [poly] small [micro] gyri (convolutions 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).

Etiology

Causes are genetic, viral or due to nutritional deficits during gestation.

An association with the gene WDR62 has been identified.

See also

• Bilateral frontoparietal polymicrogyria (genetic lesion)
• Augmentative and alternative communication
• Epilepsy Phenome/Genome Project

Further reading

• Schuyler's Monster: A Father's Journey with His Wordless Daughter, Robert Rummel-Hudson, St. Martin's Press, 2008 (ISBN 978-0312372422)
• Congenital Bilateral Perisylvian Syndrome - A Family Story