Abstract
Megalencephaly is a neuronal migration disorder characterized by an abnormally large brain. Numerous associated syndromes and various molecular mutations have been identified as an etiology for megalencephaly, however, SCN2A mutations have not been previously described. This report highlights a case of a term male megalencephalic neonate who presents with intractable seizures, who was found to have SCN2A gene variant that has now been identified as pathogenic. This patient expands our knowledge of the phenotypic spectrum of SNC2A mutations by adding consideration for macroscopic brain findings. Currently, we have no direct link between SCN2A mutations and megalencephaly, but our patient highlights the potential overlap in disease processes. It is possible that the biochemical disturbance associated with abnormal neuronal migration also affects the neuronal circuitry, thus increasing the propensity for electrical dysfunction and manifesting as seizures.
Highlights
Bilateral megalencephaly is a rare malformation of the central nervous system that affects 1 out of 50 children in the general
We report a novel SCN2A gene variant association in a neonate with megalencephaly and intractable seizures
Numerous associated syndromes and many molecular mutations have been identified as causes for megalencephaly but SCN2A mutations have not been previously reported [1,2,3]
Summary
Bilateral megalencephaly is a rare malformation of the central nervous system that affects 1 out of 50 children in the general It is a disorder of abnormal brain proliferation and neuronal cell migration, defined as brain weight more than 2 standard deviations above the age-related mean [1]. Case Presentation A term, small for gestational age, non-dysmorphic male infant was born to non-consanguineous parents at 37 weeks gestation via Cesarean section for breech presentation. His birth weight was 2422g, length 45.8cm head circumference 33cm and Apgar scores were 5 at 1 minute, 9 at 5 minutes. Fig-1: Electroencephalography (EEG) demonstrating migrating partial seizures. MRI demonstrated no structural abnormalities but multiple areas of bilateral punctate white matter injury with increased T1 signal, some with restricted diffusion (Fig-3,4). Infant was terminally extubated and died on day of life 10
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