periventricular nodular heterotopia

Periventricular nodular heterotopia (PNH) is a brain malformation that occurs when some neurons do not properly migrate to the cerebral cortex during brain development. Instead, these neurons remain as nodules along the lining of the ventricles. PNH is typically an X-linked dominant disorder, meaning it is more common in females, while prenatal lethality is often observed in males. Individuals with this condition may have normal intelligence or borderline intellectual deficits and may also experience epilepsy. Some people may have additional features, including cardiovascular issues or blood clotting problems.

People with periventricular nodular heterotopia may experience epilepsy that can vary in severity. They might also have a range of cognitive abilities from normal to borderline intellectual deficits. Additionally, there can be extra-central nervous system signs like cardiovascular defects or blood clotting abnormalities.

Periventricular nodular heterotopia is caused by abnormal neuronal migration during prenatal brain development. It is typically inherited in an X-linked dominant manner, which means the genetic change primarily affects females and can be more severe in males, often leading to prenatal lethality.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.