Periventricular Nodular Heterotopia
What is Periventricular Nodular Heterotopia?
This specific brain abnormality occurs during the first two trimesters of fetal development when neurons fail to migrate into the proper position and instead cluster around the ventricles in the brain. Patients are typically diagnosed after experiencing frequent seizures that tend to resist medications. Some patients also experience heart and lung problems. Surgery is often the best treatment for patients with periventricular nodular heterotopia.
Causes of Periventricular Nodular Heterotopia
This genetic abnormality is caused by a mutation in one of two genes. It is more likely to develop in females and to appear with the symptom of seizures in the teenage years.
Symptoms of Periventricular Nodular Heterotopia
The condition is typically discovered after patients experience seizures that result in a diagnosis of drug-resistant epilepsy. Patients may also experience heart and lung problems. While patients typically have normal intelligence, a doctor may see severe brain malformations, small head size, developmental delays, and frequent infections.
Periventricular nodular heterotopia usually becomes evident when seizures first appear, often during the teenage years. The nodules around the ventricles are then typically discovered when magnetic resonance imaging (MRI) studies are done. Affected individuals usually have normal intelligence, although some have mild intellectual disability. Difficulty with reading and spelling (dyslexia) and movement problems have been reported in some people with periventricular heterotopia.
Diagnosis of Periventricular Nodular Heterotopia
When a patient with epilepsy undergoes an MRI, a neurologist will detect single or multiple nodules of grey matter adjacent to the lateral ventricular walls. The nodules usually bulge into the ventricle. They can vary in size and may be one of multiple brain abnormalities detected in a patient. A doctor may also order a PET scan or an EEG scan, and will examine the patient for related conditions.
Treatment for Periventricular Nodular Heterotopia
Medications may be used to control seizures. Focal therapeutic intervention is often used to treat the seizures caused by periventricular nodular heterotopia. Invasive EEGs can be used to determine placement of electrode implants that can be used to control seizures. Treatment may also include surgery for removal of the lesion and, more recently, laser ablation guided with magnetic resonance. Surgical outcomes are favorable when complete ablation of nodules is achieved.
When conventional therapies prove unsuccessful, we provide our patients access to leading-edge clinical trials of investigational drugs and procedures.
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