Subependymal nodular heterotopia

Subependymal Nodular Heterotopia (SENH) is a rare neurological disorder characterized by the presence of nodules of gray matter located in the wrong place in the brain. These nodules are found beneath the ependyma, a thin layer of cells lining the ventricles of the brain. This condition is a form of heterotopia, which refers to the displacement of body tissues to an abnormal location.

Causes

Subependymal nodular heterotopia is most commonly caused by mutations in the FLNA gene, which provides instructions for producing filamin A, a protein that helps build the cellular cytoskeleton. The cytoskeleton gives structure to cells and enables them to move and divide. Mutations in the FLNA gene disrupt the normal development of the neuronal network, leading to the misplacement of neurons during brain development.

Symptoms

The symptoms of SENH can vary widely among affected individuals. Some people may remain asymptomatic throughout their lives, while others can experience a range of neurological symptoms. The most common symptom is epilepsy, which can manifest in various forms and severities. Other possible symptoms include learning disabilities, intellectual disability, and coordination problems. The severity of symptoms often correlates with the extent of heterotopia present in the brain.

Diagnosis

Diagnosis of subependymal nodular heterotopia is primarily based on magnetic resonance imaging (MRI) of the brain, which can reveal the characteristic nodules of misplaced gray matter. Genetic testing may also be conducted to identify mutations in the FLNA gene, providing further confirmation of the diagnosis.

Treatment

There is no cure for SENH, and treatment focuses on managing symptoms, particularly seizures. Antiepileptic drugs (AEDs) are commonly prescribed to control epilepsy. In some cases, surgery may be considered to remove focal areas of the brain responsible for severe seizures. Additionally, individuals with SENH may benefit from educational and developmental support to address learning disabilities and developmental delays.

Prognosis

The prognosis for individuals with subependymal nodular heterotopia varies depending on the severity of the condition and the presence of associated symptoms. While some individuals may lead relatively normal lives with minimal intervention, others may require ongoing treatment and support for epilepsy and other neurological symptoms.

Subependymal nodular heterotopia Resources
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