Ekeke P1*, Naik M2,3, Vats KR4,5
1Division of Newborn Medicine, UPMC Children’s Hospital of Pittsburgh
2Director, Neonatal Neurology Program, Children’s Hospital of Pittsburgh of UPMC
3Assistant Professor, University of Pittsburgh School of Medicine
4Division of Newborn Medicine, UPMC Magee-Women’s Hospital
5Assistant Professor, University of Pittsburgh School of Medicine
Corresponding Author: Paris Ekeke
Address: Department of Pediatrics, Division of Newborn Medicine, UPMC Children’s Hospital of Pittsburgh, 4401 Penn Avenue, Pittsburgh, Pennsylvania 15224, Ph: 574-286-4104; E-mail: firstname.lastname@example.org
Received date: 29 September 2019; Accepted date: 18 November 2019; Published date: 24 November 2019
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.
Citation: Ekeke P, Naik M, Vats KR. Megalencephaly and Epileptic Encephalopathy: Bad luck or a common pathway?. Asp Biomed Clin Case Rep. 2019 Nov 24;2(3):129-135
Copyright © 2019 Ekeke P, Naik M, Vats KR. This is an open-access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium provided the original work is properly cited.
Keywords: Megalencephaly; Epileptic Encephalopathy; SCN2A Mutations; Neuronal Migration
Abbreviations: PI3K: Phosphatidylinositol 3-Kinase; MCAP: Megalencephaly-Capillary Malformation; MPPH: Megalencephaly Polydactyly Polymicrogyria Hydrocephalus