The phenotypic spectrum of epilepsy associated with periventricular nodular heterotopia

Paliotti, Karina; Dassi, Christelle; Berrahmoune, Saoussen; Bejaran, Marlin Liz; Davila, Carlos Eduardo Valera; Martinez, Ariadna Borràs; Estupiñà, Maria Carme Fons; Mancardi, Maria Margherita; Riva, Antonella; Giacomini, Thea; Severino, Mariasevina; Romaniello, Romina; Dubeau, François; Srour, Myriam; Myers, Kenneth A.

doi:10.1007/s00415-023-11724-z

Cited by 4 publications

(1 citation statement)

References 32 publications

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“…33 Mean seizure onset for sporadic forms of PVNH been reported to be 7.9 years. 34 Therefore, the absence of an association with epilepsy in our case series does not necessarily mean that seizures will not develop later. This speaks to the importance of long-term followup in this speci c population.…”

Section: Discussionmentioning

confidence: 78%

Periventricular nodular heterotopia in patients with a prenatal diagnosis of myelomeningocele/myeloschisis: Associations with seizures and neurodevelopmental outcomes during early childhood

Flanders,

Schreiber,

Punchak

et al. 2024

Preprint

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Purpose Historically, the presence of gray matter heterotopia was a concern for adverse postnatal neurocognitive status in patients undergoing fetal closure of open spinal dysraphism. The purpose of this study was to evaluate neurodevelopmental outcomes and the onset of seizures during early childhood in patients with a prenatal diagnosis of myelomeningocele/myeloschisis (MMC) and periventricular nodular heterotopia (PVNH). Methods All patients evaluated at the Center for Fetal Diagnosis and Treatment with a diagnosis of MMC between June 2016 to March 2023 were identified. PVNH was determined from prenatal and/or postnatal MRI. The Bayley Scales of Infant and Toddler Development (edition III or IV) were used for neurodevelopmental assessments. Patients were screened for seizures/epilepsy. Results Of 497 patients evaluated with a prenatal diagnosis of MMC, 99 were found to have PVNH on prenatal MRI, of which 35 had confirmed PVNH on postnatal imaging. From the 497 patients, 398 initially did not exhibit heterotopia on prenatal MRI, but 47 of these then had confirmed postnatal PVNH. The presence of PVNH was not a significant risk factor for postnatal seizures in early childhood. The average neurodevelopmental scores were not significantly different among heterotopia groups for cognitive, language, and motor domains. Conclusion The presence of PVNH in patients with a prenatal diagnosis of MMC does not indicate an increased risk for neurodevelopmental delay at 1 year of age. We did not demonstrate an association with seizures/epilepsy. These findings can aid clinicians in prenatal consultation regarding fetal repair of open spinal dysraphism.

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Section: Discussionmentioning

confidence: 78%