Ihle-Hansen Håkon, Lohne Siri Margrete Hugo, Dahl-Hansen Eline
Tidsskr Nor Laegeforen. 2019 Oct 31;139(16). doi: 10.4045/tidsskr.19.0165. Print 2019 Nov 5.
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.
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.
PNH is a condition that needs multidisciplinary assessments.
室周结节性异位（PNH）是一种大脑胚胎神经元迁移障碍疾病。该病症罕见且具有遗传异质性，常由FLNA基因突变引起。最常见的症状是癫痫发作。PNH常与其他病症相关，如心血管异常。
一名年轻男性在首次出现意识丧失后入院。入院时患者一般状况正常，临床检查未发现异常。然而，入院时进行的脑部成像显示为PNH，而进一步的心脏检查发现房室传导阻滞，有植入起搏器的指征。在植入起搏器并开始抗癫痫药物治疗后，患者症状消失。
PNH是一种需要多学科评估的病症。
