In medicine, heterotopia is the presence of a particular tissue type at a non-physiological site, but usually co-existing with original tissue in its correct anatomical location. In other words, it implies ectopic tissue, in addition to retention of the original tissue type.

What are the symptoms of heterotopia?

Symptoms typically begin with seizures in the teenage years. Intelligence is usually normal, but mild intellectual disability (including difficulty with reading and spelling) may occur. People with this condition also appear to be at increased risk for stroke and other vascular or coagulation (clotting) problems.

Is GREY matter heterotopia a disability?

GMH is a neuronal migration disorder which is more common than was once thought in the time before MRI scans were regularly used. The condition most frequently presents with epilepsy but intellectual disability of varying severity is also commonly found.

Can heterotopia cause headaches?

Epilepsy in periventricular nodular heterotopia is common but headache is rare [3]. Asymmetric ventriculomegaly is a common radiological feature and is thought to be a structural consequence of the presence of heterotopia, rather than a disorder of ependymal compliance or CSF dynamics [4].

What causes heterotopia?

In most cases, periventricular heterotopia is caused by mutations in the FLNA gene. This gene provides instructions for producing the protein filamin A, which helps build the network of protein filaments (cytoskeleton ) that gives structure to cells and allows them to change shape and move.

How do you treat heterotopia?

Rarely, periventricular heterotopia is associated with a duplication of genetic material on chromosome 5. Treatment is generally focused on managing recurrent seizures with medications.

Is heterotopia a genetic disorder?

X-linked periventricular heterotopia or FLNA-related periventricular nodular heterotopia is a genetic disorder in which nerve cells in the brain do not migrate properly during early fetal development (a neuronal migration disorder). It is characterized by the presence of clumps of neurons near the brain’s ventricles.

What causes a smooth brain?

ɛnˈsɛf. əl. i/, meaning smooth brain) is a set of rare brain disorders where the whole or parts of the surface of the brain appear smooth. It is caused by defective neuronal migration during the 12th to 24th weeks of gestation resulting in a lack of development of brain folds (gyri) and grooves (sulci).

What is neuronal migration disorder?

Neuronal migration disorders (NMDs) are a group of birth defects caused by the abnormal migration of neurons in the developing brain and nervous system. In the developing brain, neurons must migrate from the areas where they are born to the areas where they will settle into their proper neural circuits.

Is gray matter heterotopia rare?

Article abstract—Gray matter heterotopia are common malformations of cortical development. From a clinical perspec- tive, affected patients are best divided into three groups: subependymal, subcortical, and band heterotopia (also called double cortex).

Can GREY matter cause seizures?

GMH cause a variety of symptoms mainly including epilepsy, frequently resistant to medication. GMH often affects as well higher brain functions being responsible for mental delay, although symptoms range from absent to profound.

How is gray matter heterotopia treated?

Treatment. When seizures are present in any forms of cortical dysplasia, they are resistant to medication. Frontal lobe resection provides significant relief from seizures to a minority of patients with periventricular lesions.

What is heterotopic gray matter?

Grey matter heterotopia is a malformation of cortical development, where cortical cells (grey matter) are present in inappropriate locations in the brain, due to interruption in their migration to their correct location in the cerebral cortex.

What is bilateral periventricular nodular heterotopia?

Periventricular nodular heterotopia is a brain malformation of cortical development where there is abnormal clumping of grey matter (nerve cells) along the lining of the fluid-filled brain cavities called the ventricles. PVNH seizures can be unilateral (on one side) or bilateral (on both sides).

What is the grey matter?

Anatomical terminology. Grey matter (or gray matter) is a major component of the central nervous system, consisting of neuronal cell bodies, neuropil (dendrites and unmyelinated axons), glial cells (astrocytes and oligodendrocytes), synapses, and capillaries.

What can cause focal seizures?

Some of the possible causes of focal seizures are:

Is gray matter related to intelligence?

Researchers say white and gray matter are both necessary for general intelligence, but they perform different functions. Gray matter represents information processing centers in the brain, and white matter represents the network or connections between those processing centers.

Does GREY matter decrease with age?

Gray matter volume decreases with age in networks containing subcortical structures, sensorimotor structures, posterior, and anterior cingulate cortices. Gray matter volume in temporal, auditory, and cerebellar networks remains relatively unaffected with advancing age.

What are focal seizures?

Focal epilepsies are characterized by seizures arising from a specific part (lobe) of the brain. Focal epilepsies include idiopathic location-related epilepsies (ILRE), frontal lobe epilepsy, temporal lobe epilepsy, parietal lobe epilepsy and occipital lobe epilepsy.

What is dysplasia in the brain?

What is Cortical Dysplasia? Cortical dysplasia occurs before a child is born, when developing brain cells, or neurons, fail to reach the parts of the brain for which they are genetically destined. As a result, those areas of the brain lack the appropriate neural connections to function properly.

What causes PVNH?

The genetic forms of PVNH are caused by mutation or deletion of one of the following genes: FLNA, ARFGEF2, ERMARD and NEDD4L. In recent years new genes have been identified, however they may still need to be validated as a definite cause so we may not always list them until official sources do.

What is Pachygyria syndrome?

Pachygyria is a developmental condition due to abnormal migration of nerve cells (neurons) in the developing brain and nervous system.[1568] With pachygyria, there are few gyri (the ridges between the wrinkles in the brain), and they are usually broad and flat.

Are wrinkled brains smarter?

On average, women have thicker cortices – the wrinkly, outer layer of the brain, responsible for higher-level functions – and thicker cortices have been associated with higher IQ scores. “All the wrinkles and convolutions allow more of that computational capacity to fit in,” says Jung.

What happens if you have a smooth brain?

Many will die before the age of 10 years. The cause of death is usually aspiration of food or fluids, respiratory disease, or severe seizures. Some will survive, but show no significant development — usually not beyond a 3- to 5-month-old level. Others may have near-normal development and intelligence.

Is lissencephaly cerebral palsy?

It is to consider lissencephaly in the diagnosis of developmental delay with seizure disorder as many patients may be diagnosed as cerebral palsy. Several lissencephaly syndrome have been described, Here three cases of lissencephaly with developmental delay and Intractable seizures are reported.

Can neuronal migration be cured?

How is neuronal migration defect treated? There is no treatment for neuronal migration defect, but treatment is focused on the symptoms, which can include seizure. While the seizures associated with this condition are difficult to control with medication, special diet and surgery can help control them.

What causes neuronal migration?

What causes a neuronal migration disorder? Doctors think that neuronal migration disorders are genetic in that a faulty gene stops the neural circuits forming properly. Some neuronal migration disorders are passed on from parent to child, but most develop as a sporadic genetic fault that just happens.

What is neuronal connectivity?

Anatomical connectivity refers to a network of physical or structural (synaptic) connections linking sets of neurons or neuronal elements, as well as their associated structural biophysical attributes encapsulated in parameters such as synaptic strength or effectiveness.