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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
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 ...
Patients with arachnoid cysts may never show symptoms, even in some cases where the cyst is large. Therefore, while the presence of symptoms may provoke further clinical investigation, symptoms independent of further data cannot—and should not—be interpreted as evidence of a cyst's existence, size, location, or potential functional impact on the patient.
Yet women experience a long list of other symptoms during perimenopause (the years leading up to menopause) that are not limited to the reproductive organs, such as hot flashes, brain fog, mood ...
Classical lissencephaly, also known as type I or generalized agyria-pachygyria, is a severe brain malformation of a smooth cerebral surface, abnormally thick (10–20 mm) cortex with four layers, widespread neuronal heterotopia, enlarged ventricles, and agenesis or malformation of the corpus callosum.
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 ...