Pachygyria

What symptoms might pachygyria cause in affected adults? Is pachygyria associated with other conditions in adults?

Pachygyria (macrogyria) has been diagnosed in adults with epilepsy. Pachygyria has also occurred in association with pseudobulbar palsy and intellectual disability in both children and adults. The severity of symptoms associated with pachygyria varies depending on a variety of factors, including the location and size of the abnormality.

Last updated on 05-01-20

What causes pachygyria?

Pachygyria, also called "incomplete lissencephaly," may be caused by various non-genetic (environmental) and genetic factors that play a role in impairing the development of the outer region of the brain (the cerebral cortex). The cerebral cortex is responsible for conscious movement and thought, and should have deep convolutions (gyri) and grooves (sulci), which are formed by "infolding" of the cerebral cortex. During normal embryonic growth, immature cells that later develop into specialized nerve cells (neurons) normally migrate to the brain's surface, making several layers of cells. When this process is impaired, the cells don't migrate to their locations, resulting in too few cell layers and absence (agyria) or incomplete development (pachygyria) of gyri.

Environmental factors that contribute to the condition may include intrauterine infection during pregnancy (such as a virus), and insufficient flow of oxygenated blood to the brain (ischemia) during fetal development.

More than 25 syndromes due to abnormal migration of neurons have been reported; in some of these cases, the genetic cause and pattern of inheritance depends on that of the specific syndrome.

Mutations in several genes have been identified in people with abnormalities of cortical development, including the KIF5C,KIF2A, DYNC1H1, WDR62, and TUBG1 genes. Studies have also found that isolated lissencephaly may result from mutations in the LIS1 _and _XLIS (also called DCX ) genes.

People interested in learning about the cause of pachygyria in themselves or family members should speak with their health care provider or a a genetics professional.

Last updated on 05-01-20

What is pseudobulbar palsy?

Pseudobulbar palsy is characterized by difficulty speaking and swallowing, a hyperactive gag reflex, and emotional outbursts. Pseudobulbar palsy causes a slow and labored speech with a harsh, strained, strangled, and nasal sound. Swallowing is difficult due to an inability to coordinate chew and swallow reflexes. There can be a lack of voluntary facial movements and spontaneous or unmotivated crying and laughter (emotional lability).

Pseudobulbar palsy is caused by lesions of the corticobulbar tracts (upper motor neurons). These tracts contain nerves which control muscles of the head and face (including the pharynx, palate, lips, tongue, and larynx). The lesions may develop in association with strokes, blood cancers (leukemia), or trauma. Pseudobulbar palsy can also occur in association with CADASIL, progressive supranuclear palsy, central pontine myelinolysis, congenital bilateral perisylvian syndrome, pachygyria and acquired epileptiform opercular syndrome (seizure induced symptoms).

Last updated on 05-01-20

What is pachygyria?

Pachygyria is a developmental condition due to abnormal migration of nerve cells (neurons) in the developing brain and nervous system. With pachygyria, there are few gyri (the ridges between the wrinkles in the brain), and they are usually broad and flat. The condition is also known as "incomplete lissencephaly." Pachygyria may occur alone (isolated) or as part of various underlying syndromes. Symptoms vary among affected people and may include moderate to severe developmental delay, seizures, poor muscle tone and control, feeding or swallowing difficulties, and small head size (microcephaly). In most cases it is not inherited, but various inheritance patterns have been reported. Treatment is symptomatic and supportive.

Last updated on 05-01-20

What is the long-term outlook for people with pachygyria?

The long-term outlook (prognosis) varies depending on the underlying cause, the degree of brain abnormality and subsequent neurological losses.

Last updated on 05-01-20

What treatment options are available for adults with pachygyria?

Treatment is symptomatic, and may include anti-seizure medication and physical, occupational, and speech therapies as needed.

Last updated on 05-01-20

How might pachygyria be treated?

Because the symptoms of the condition vary from person to person, treatment is symptomatic, and may include anti-seizure medication, such as Trileptal, and special or supplemental education consisting of physical, occupational, and speech therapies.

Last updated on 05-01-20


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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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