Background: Periventricular nodular heterotopia (PNH) is an embryonal neuronal migration disturbance of the brain. The condition is rare and genetically heterogeneous, often caused by mutations in the FLNA gene. The most common symptoms are epileptic seizures. PNH is often associated with other conditions such as cardiovascular abnormalities.
Case presentation: A young man was admitted to hospital after a first episode of loss of consciousness. The patient was in normal general condition upon admission, and the clinical examination revealed no abnormalities. However, cerebral imaging performed upon admittance showed PNH, while an extended cardiac examination revealed atrioventricular block with the indication for a pacemaker. After pacemaker implantation and introduction of antiepileptic drug therapy, the patient has been free of symptoms.
Interpretation: PNH is a condition that needs multidisciplinary assessments.