Unusual association of SCN2A epileptic encephalopathy with severe cortical dysplasia detected by prenatal MRI.

Silvia Bernardo, Enrica Marchionni, Sabrina Prudente, Paola De Liso, Alberto Spalice, Antonella Giancotti, Lucia Manganaro, Antonio Pizzuti

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2017;21(3):587-590

PMID: 28254201

Full Text on Elsevier Science View on PubMed

Abstract

We present an atypical association of SCN2A epileptic encephalopathy with severe cortical dysplasia. SCN2A mutations are associated with epileptic syndromes from benign to extremely severe in absence of such macroscopic brain findings. Prenatal MRI (Magnetic Resonance Imaging) in a 32 weeks fetus, with US (Ultrasonography) diagnosis of isolated ventriculomegaly showed CNS (Central Nervous System) dysplasia characterized by lack of differentiation between cortical and subcortical layers, pachygyria and corpus callosum dysgenesis. Postnatal MRI confirmed the prenatal findings. On day 6 the baby presented a focal status epilepticus, partially controlled by phenobarbital, phenytoin, and levetiracetam. After three weeks a moderate improvement in seizure control has been achieved with carbamazepine. Exome sequencing detected a de novo heterozygous mutation in the SCN2A gene, encoding the α-subunit of a sodium channel. The patient findings expand the phenotype spectrum of SCN2A mutations to epileptic encephalopathies with macroscopic brain developmental features.

Address: Department of Radiological, Oncological and Pathological Sciences, Sapienza University of Rome, Policlinico Umberto I Hospital, Viale Regina Elena 324, Rome, Italy; Department of Experimental Medicine, Sapienza University of Rome, Policlinico Umberto I Hospital, Viale Regina Elena 324, Rome, Italy. Electronic address: [email protected].; Department of Experimental Medicine, Sapienza University of Rome, Policlinico Umberto I Hospital, Viale Regina Elena 324, Rome, Italy; IRCCS Casa Sollievo della Sofferenza, Mendel-laboratory, San Giovanni Rotondo, Italy. Electronic address: [email protected].; IRCCS Casa Sollievo della Sofferenza, Mendel-laboratory, San Giovanni Rotondo, Italy. Electronic address: [email protected].; Department of Pediatrics, Child Neurology and Psychiatry, Sapienza University of Rome, Policlinico Umberto I Hospital, Viale Regina Elena 324, Rome, Italy. Electronic address: [email protected].; Department of Pediatrics, Child Neurology and Psychiatry, Sapienza University of Rome, Policlinico Umberto I Hospital, Viale Regina Elena 324, Rome, Italy. Electronic address: [email protected].; Department of Obstetrics, Gynecology and Urologic Sciences, Sapienza University of Rome, Policlinico Umberto I Hospital, Viale Regina Elena 324, Rome, Italy. Electronic address: [email protected].; Department of Radiological, Oncological and Pathological Sciences, Sapienza University of Rome, Policlinico Umberto I Hospital, Viale Regina Elena 324, Rome, Italy. Electronic address: [email protected].; Department of Experimental Medicine, Sapienza University of Rome, Policlinico Umberto I Hospital, Viale Regina Elena 324, Rome, Italy; IRCCS Casa Sollievo della Sofferenza, Mendel-laboratory, San Giovanni Rotondo, Italy. Electronic address: [email protected].

DOI: 10.1016/j.ejpn.2017.01.014

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MeSH Terms: Adult, Brain Diseases, Carbamazepine, Female, Humans, Infant, Newborn, Infant, Premature, Magnetic Resonance Imaging, Male, Malformations of Cortical Development, Mutation, NAV1.2 Voltage-Gated Sodium Channel, Neuroimaging, Phenotype, Seizures