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There is no known cure for lissencephaly. Most individuals will die at an early age due to failure to thrive or infections such as pneumonia. Patients with milder forms such as double cortex syndrome may have mild retardation and seizures only
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∙ 13y ago
The prognosis for lissencephaly can vary significantly depending on the severity of the condition. Individuals with severe lissencephaly often have significant developmental delays, seizures, and may have a shortened lifespan. On the other hand, individuals with milder forms of lissencephaly may have better outcomes with less severe developmental delays and seizures. It is important to note that the prognosis can be highly individualized and is best discussed with a medical professional familiar with the specific case.
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How common is lissencephaly?
Type I lissencephaly is more common and comprises 43% of lissencephaly syndromes in some studies. Type II lissencephaly accounted for 14% of lissencephalies
What gene is associated with Cobblestone lissencephaly?
Cobblestone lissencephaly is associated with abnormalities in fukutin, a gene responsible for Fukuyama muscular dystrophy , a syndrome consisting of muscle weakness and cobblestone lissencephaly.
What is Type II lissencephaly?
Type II, or "cobblestone" lissencephaly, is characterized by a bumpy appearance of the abnormal surface of the brain. The cortex in Type II lissencephaly is completely abnormal and there are no distinguishable layers
What is type I lissencephaly?
Type I, also known as classical lissencephaly, is distinguished by the smooth surface of the cerebral cortex and an abnormal four-layered cortex. Classical lissencephaly can be associated with abnormalities of the rest of the brain
What genes have been implicated in causing lissencephaly?
The first gene causing lissencephaly, LIS1, was identified in patients with Miller-Dieker syndrome, a genetic syndrome caused by deletions of chromosome 17 that is a combination of lissencephaly and other facial deformities
What are the characteristics of lissencephaly?
In lissencephaly or agyria, neuronal migration fails globally, causing the brain to appear completely smooth and have abnormal layering in the cortex.
What are the special concerns for children with lissencephaly?
Due to developmental disability, children with lissencephaly who survive beyond the age of two may benefit from special education programs
What type of brain malformation is lissencephaly?
Lissencephaly is part of a spectrum of brain malformations, which are referred to as the agyriapachygyria-band spectrum and are caused by abnormalities in neuronal migration, a critical process in brain development
When was lissencephaly first described?
Lissencephaly was first described by Owen in 1868 and means "smooth brain," which describes the gross appearance of the brain. Microscopically, the brain appears abnormally thick and disorganized
What is Lissencephaly?
Lissencephaly is a neurological disorder of early brain development that leads to the gross appearance of a smooth brain. The malformed brain lacks the characteristic convolutions of the normal cerebral cortex and is abnormally thick
What treatment team assembles to treat a paient with lissencephaly?
Management of lissencephaly usually involves a pediatrician, pediatric neurologist , and physical therapists. A geneticist may be involved to provide counseling and advice about family planning
How is lissencephaly treated?
Treatment of individuals with lissencephaly depends on the manifesting symptoms. Patients may need anticonvulsant drug therapy for treatment of seizures. Muscle relaxants may be used for symptoms of increased tone
