Objective: Periventricular nodular heterotopia is a neurodevelopmental disorder in which neurons fail to migrate to the cortical surface, forming discrete areas of grey matter adjacent to the lateral ventricles. Given that periventricular nodular heterotopia is seen as an incidental finding in patients without epilepsy, causality between periventricular nodular heterotopia and epilepsy cannot be assumed. Furthermore, the structural characteristics of periventricular nodular heterotopia in patients with epilepsy are poorly defined and can be misleading. In this article, we investigate whether structural radiological characteristics of heterotopia can predict epileptogenicity in pediatric patients.
Methods: Pediatric patients with periventricular nodular heterotopia, but no other epilepsy-associated cortical abnormalities on magnetic resonance imaging, were identified and divided into two groups: with epilepsy and without epilepsy. Radiological characteristics of laterality, regionalization, largest dimension and number of nodules were compared between the two groups.
Results: Only periventricular nodular heterotopia spreading across several regions was associated with a statistically higher chance of epilepsy. Other features including laterality, individual region, number and largest dimension did not reliably predict epileptogenicity.
Significance: Most radiological characteristics of periventricular nodular heterotopia are similar in patients with and without epilepsy. The involvement of multiple periventricular regions with heterotopia was the only feature that inferred a higher risk of epilepsy. Periventricular nodular heterotopia requires a comprehensive work-up and should be interpreted in the context of each individual patient and not assumed to be directly causative of epilepsy, nor unrelated to it. Therefore, further studies using additional structural and functional imaging modalities are needed to determine the radiological features of epileptogenic periventricular nodular heterotopia.
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http://dx.doi.org/10.1684/epd.2022.1450 | DOI Listing |
J Med Genet
January 2025
Centres de référence Maladies Rares « Neurogénétique » et « Anomalies du développement », Medical Genetics Departement, CHU de Bordeaux, Bordeaux, France.
Background: loss of function manifests across a broad spectrum of phenotypes, ranging from severe prenatal onset to asymptomatic cases. Bilateral periventricular nodular heterotopia (BPNH) consistently occurs in affected individuals. This retrospective study involving French patients with BPNH evaluates the prevalence of gene dosage anomalies and investigates genotype-phenotype correlations in a large cohort of French patients with BPNH.
View Article and Find Full Text PDFCureus
December 2024
Pediatrics, Unidade Local de Saúde do Algarve-Hospital de Faro, Faro, PRT.
A female adolescent with no relevant past history was admitted to the Pediatric Emergency Department with two episodes of seizures without trauma, fever, or other symptoms. Head-MRI revealed bilateral subependymal nodular irregularities lining the lateral ventricles, with similar signal evolution to grey matter, confirming the diagnosis of periventricular nodular heterotopias (PVNH). Genetic testing revealed a Filamin A ( variant; family studies were negative.
View Article and Find Full Text PDFEpilepsia
December 2024
Aix Marseille Univ, INSERM, INS, Inst Neurosci Syst,, Marseille, France.
Periventricular nodular heterotopia (PVNH) is a neuronal migration disorder often associated with drug-resistant epilepsy. The epileptogenic zone network (EZN) in PVNH is generally large, contraindicating surgery. Stereoelectroencephalography (SEEG) can be proposed to map the EZN and perform radiofrequency thermocoagulation (THC) with an efficacy rate of approximately 65%.
View Article and Find Full Text PDFEur Respir J
November 2024
University of Paris-Saclay, School of Medicine, le Kremlin-Bicêtre, France
Background: Pulmonary hypertension (PH) is an unusual complication of X-linked disease caused by loss-of-function (LOF) variants in the () gene. Patients with LOF may also present dysmorphic facial features, aortic dilation, thrombopenia, and periventricular nodular heterotopia (PVNH).
Methods: We reported clinical, functional, radiologic, and hemodynamic characteristics of patients with LOF variants and PH from the French PH Network.
Prenat Diagn
December 2024
Division of Ultrasound in Obstetrics & Gynecology, Lis Maternity and Women's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
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