Pachygyria
Pachygyria
Pachygyria (pronounced: pak-i-JI-ree-uh) is a rare, congenital (present from birth) brain malformation where the brain surface is smooth rather than having the normal folds and grooves.
Etymology
The term "Pachygyria" comes from the Greek words "pachy" meaning "thick" and "gyria" meaning "gyrus" or "convolutions of the brain".
Definition
Pachygyria is characterized by a lack of normal gyri (folds) in the brain and the presence of fewer, abnormally broad gyri. It is a type of lissencephaly, which is a group of rare brain disorders where the normal folds and grooves in the brain are absent or not properly formed.
Symptoms
Symptoms of Pachygyria can vary greatly depending on the severity of the condition. Common symptoms include developmental delay, intellectual disability, epilepsy, poor muscle tone (hypotonia), and difficulties with coordination and balance (ataxia).
Causes
Pachygyria is usually caused by abnormal neuron migration during the early development of the fetal brain. Genetic mutations in several genes, including the LIS1, DCX, and TUBA1A genes, have been associated with Pachygyria.
Diagnosis
Diagnosis of Pachygyria is typically made through magnetic resonance imaging (MRI) which can show the characteristic abnormalities in the brain's structure. Genetic testing may also be used to identify the underlying genetic cause.
Treatment
There is currently no cure for Pachygyria. Treatment is symptomatic and supportive, and may include medications to manage seizures, physical therapy to improve motor skills, and special education services to address developmental delays and learning disabilities.
See also
External links
- Medical encyclopedia article on Pachygyria
- Wikipedia's article - Pachygyria
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