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Tuberous sclerosis
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Tuberous sclerosis
Tuberous sclerosis complex (TSC) is a rare, multi-system genetic disorder that causes benign tumors to grow in various organs, including the brain, kidneys, heart, liver, eyes, lungs, and skin. Symptoms may include seizures, intellectual disability, and developmental delay.
TSC has autosomal dominant inheritance, meaning a child with TSC must also have at least one parent with it. It is caused by a mutation of either of two genes, TSC1 and TSC2, which code for the proteins hamartin and tuberin, respectively. TSC2 mutations are more frequent and have usually more severe symptoms. These proteins act as tumor growth suppressors, regulating cell proliferation and differentiation. Without them, tumors are more likely to appear.
Life for individuals with TSC varies depending on the severity of the symptoms, but most patients have normal life expectancy through routine medical care. The prevalence of the disease is estimated to be 7 to 12 in 100,000. The disease is often abbreviated to tuberous sclerosis, which refers to the hard swellings in the brains of patients, first described by French neurologist Désiré-Magloire Bourneville in 1880.
The physical manifestations of TSC are due to the formation of hamartia (malformed tissue such as the cortical tubers), hamartomas (benign growths such as facial angiofibroma and subependymal nodules), and very rarely, cancerous hamartoblastomas. The effect of these on the brain leads to neurological symptoms such as seizures, intellectual disability, developmental delay, and behavioral problems.[citation needed]
Three types of brain tumours are associated with TSC:[citation needed]
Classic intracranial manifestations of TSC include subependymal nodules and cortical/subcortical tubers.
The tubers are typically triangular in configuration, with the apex pointed towards the ventricles, and are thought to represent foci of abnormal neuronal migration. The T2 signal abnormalities may subside in adulthood, but will still be visible on histopathological analysis. On magnetic resonance imaging (MRI), TSC patients can exhibit other signs consistent with abnormal neuron migration such as radial white matter tracts hyperintense on T2WI and heterotopic grey matter.[citation needed]
Subependymal nodules are composed of abnormal, swollen glial cells and bizarre multinucleated cells which are indeterminate for glial or neuronal origin. Interposed neural tissue is not present. These nodules have a tendency to calcify as the patient ages. A nodule that markedly enhances and enlarges over time should be considered suspicious for transformation into a subependymal giant cell astrocytoma, which typically develops in the region of the foramen of Monro, in which case it is at risk of developing an obstructive hydrocephalus.
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Tuberous sclerosis
Tuberous sclerosis complex (TSC) is a rare, multi-system genetic disorder that causes benign tumors to grow in various organs, including the brain, kidneys, heart, liver, eyes, lungs, and skin. Symptoms may include seizures, intellectual disability, and developmental delay.
TSC has autosomal dominant inheritance, meaning a child with TSC must also have at least one parent with it. It is caused by a mutation of either of two genes, TSC1 and TSC2, which code for the proteins hamartin and tuberin, respectively. TSC2 mutations are more frequent and have usually more severe symptoms. These proteins act as tumor growth suppressors, regulating cell proliferation and differentiation. Without them, tumors are more likely to appear.
Life for individuals with TSC varies depending on the severity of the symptoms, but most patients have normal life expectancy through routine medical care. The prevalence of the disease is estimated to be 7 to 12 in 100,000. The disease is often abbreviated to tuberous sclerosis, which refers to the hard swellings in the brains of patients, first described by French neurologist Désiré-Magloire Bourneville in 1880.
The physical manifestations of TSC are due to the formation of hamartia (malformed tissue such as the cortical tubers), hamartomas (benign growths such as facial angiofibroma and subependymal nodules), and very rarely, cancerous hamartoblastomas. The effect of these on the brain leads to neurological symptoms such as seizures, intellectual disability, developmental delay, and behavioral problems.[citation needed]
Three types of brain tumours are associated with TSC:[citation needed]
Classic intracranial manifestations of TSC include subependymal nodules and cortical/subcortical tubers.
The tubers are typically triangular in configuration, with the apex pointed towards the ventricles, and are thought to represent foci of abnormal neuronal migration. The T2 signal abnormalities may subside in adulthood, but will still be visible on histopathological analysis. On magnetic resonance imaging (MRI), TSC patients can exhibit other signs consistent with abnormal neuron migration such as radial white matter tracts hyperintense on T2WI and heterotopic grey matter.[citation needed]
Subependymal nodules are composed of abnormal, swollen glial cells and bizarre multinucleated cells which are indeterminate for glial or neuronal origin. Interposed neural tissue is not present. These nodules have a tendency to calcify as the patient ages. A nodule that markedly enhances and enlarges over time should be considered suspicious for transformation into a subependymal giant cell astrocytoma, which typically develops in the region of the foramen of Monro, in which case it is at risk of developing an obstructive hydrocephalus.
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