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Although very little is still known as to the direct cause of megalencephaly, recent studies have begun to provide early indications of possible sources for its formation. Recent research has shown that there is a strong link between genetic pathways that cause brain develop and mutations in that pathway that result in brain overgrowth.
The disease presents with various signs and symptoms affecting different parts of the body. In the head, patients exhibit macrocephaly. This is characterized by megalencephaly, which is the enlargement of the brain leading to an increase in the size of the actual head. [3] In the central nervous system, several symptoms are observed.
Macrocephaly is a condition in which circumference of the human head is abnormally large. [1] It may be pathological or harmless, and can be a familial genetic characteristic. . People diagnosed with macrocephaly will receive further medical tests to determine whether the syndrome is accompanied by particular disorde
As well as this, it is common to incur an elevated blood protein level and a high volume of lymph cells within the cerebrospinal fluid, resulting in swelling and enlargement of the brain. The most characteristic signs and symptoms experienced by patients with cerebellar degeneration include: [2] [4] muscle weakness; an uncoordinated, staggering ...
The brain can be affected in several ways in this syndrome. Some children are born with structural brain anomalies such as cortical dysplasia or polymicrogyria. While developmental delay is nearly universal in this syndrome it is variable in severity, with the majority having mild to moderate delays and a minority having severe cognitive ...
The enlarged skull of a person with hydrocephalus, which is a symptom of the excess CSF in the ventricular system. This may be caused by aqueductal stenosis, and in some cases, it is thought that hydrocephalus will cause aqueductal stenosis. Many of the signs and symptoms of aqueductal stenosis are similar to those of hydrocephalus.
Lesions in the area of cerebellopontine angle cause signs and symptoms secondary to compression of nearby cranial nerves, including cranial nerve V (trigeminal), cranial nerve VII (facial), and cranial nerve VIII (vestibulocochlear). The most common cerebellopontine angle (CPA) tumor is a vestibular schwannoma affecting cranial nerve VIII (80% ...
The cause of polymicrogyria is unclear. It is generally agreed that PMG occurs during late neuronal migration (when majority of the neurons arrived at cerebral cortex after their starting points around the ventricular system of the brain) or early cortical organization of fetal development. Evidence for both genetic and non-genetic causes ...