A rare cause of refractory epilepsy: Posterior periventricular nodular heterotopia

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 refracto...

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Bibliographic Details
Published in:Journal of pediatric neurosciences 2018-07, Vol.13 (3), p.340-342
Main Authors: Direk, Meltem, Komur, Mustafa, Ozgur, Anıl, Okuyaz, Cetin
Format: Article
Language:English
Subjects:
Case Report
Case studies
Epilepsy
Gene mutation
Genetic aspects
Mutation
NMR
Nuclear magnetic resonance
Patients
Seizures (Medicine)
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Summary: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.
ISSN:1817-1745
1998-3948
DOI:10.4103/jpn.JPN_178_17