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General
Pachygyria is a rare neurological disorder characterized by an abnormal development of the brain's cerebral cortex, resulting in a smooth or mildly folded brain surface with broad gyri (convolutions) and wide grooves. This condition is typically present at birth and can lead to various neurological symptoms and developmental delays.
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Signs & symptoms
- Developmental delays: Children with pachygyria often experience delays in reaching developmental milestones, such as sitting, crawling, walking, and speaking. - Intellectual disabilities: Individuals with pachygyria may have intellectual disabilities that range from mild to severe. - Seizures: Seizures are a common symptom of pachygyria and can manifest as various types, including focal seizures, generalized tonic-clonic seizures, or infantile spasms. - Muscle weakness and stiffness: Some individuals may have muscle weakness or stiffness, affecting their motor skills and coordination. - Speech and language difficulties: Pachygyria can result in speech and language delays or impairments. - Behavioral and psychiatric issues: Emotional instability, hyperactivity, attention deficits, and other behavioral or psychiatric problems may be observed in some individuals.
Diagnosis
Pachygyria is typically diagnosed through a combination of clinical evaluations, neuroimaging techniques, and genetic testing. Diagnostic procedures may include: - Magnetic resonance imaging (MRI): Brain imaging helps visualize the brain's structure and can reveal the presence of pachygyria. - Electroencephalogram (EEG): This test records the brain's electrical activity and helps identify abnormal patterns indicative of seizures or epilepsy. - Genetic testing: Genetic analysis can identify specific gene mutations or chromosomal abnormalities associated with pachygyria.
Treatment
Currently, there is no cure for pachygyria. Treatment focuses on managing symptoms and providing supportive care. The approach may include: - Medications: Antiepileptic drugs (AEDs) are commonly prescribed to control seizures. - Physical and occupational therapy: These therapies aim to improve motor skills, coordination, and muscle strength. - Speech and language therapy: Specialized therapy helps individuals with speech and language difficulties. - Behavioral interventions: Behavioral therapies and interventions can assist in managing behavioral and psychiatric issues. - Supportive care: Individuals with pachygyria may benefit from a supportive and multidisciplinary approach involving various healthcare professionals, including neurologists, developmental pediatricians, therapists, and educators.
Note
☝ We provide information on prescription and over-the-counter medicines, diagnosis, procedures and lab tests. This material is provided for educational purposes only and is not medical advice, diagnosis or treatment.
National Institutes of Health ∙ World Health Organization ∙ MedlinePluse ∙ Centers for Disease Control and Prevention
☝ All information has been reviewed by certified physicians from Alike
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