A Rare Cause of Refractory Epilepsy: Posterior Periventricular Nodular Heterotopia

难治性癫痫的一种罕见病因:后脑室周围结节状异位症

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Abstract

A 15-year-old male patient presented to our outpatient clinic with drug-resistant seizures. Magnetic resonance imaging of the brain showed bilateral posterior nodular heterotopia and left cerebellar dysgenesis. The patient was diagnosed with cortical developmental malformation and medically refractory epilepsy. The filamin A gene mutation was negative. Posterior periventricular nodular heterotopia is a rarer and a more different entity from classical periventricular nodular heterotopia with no gender difference and negative filamin A gene mutation. There is a limited number of case studies on posterior periventricular heterotopia. Therefore, this patient was presented to emphasize that epilepsy may be more refractory to treatment, and central congenital abnormalities including posterior fossa abnormalities are more frequent in patients with posterior periventricular nodular heterotopia.

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