Background: Non-febrile illness seizures may present in previously healthy children as afebrile seizures associated with minor infections, such as mild gastroenteritis or respiratory tract infections, and are linked to a genetic predisposition. For the novel human coronavirus SARS-CoV-2, causing COVID-19, fever, cough, and gastrointestinal complaints are the most common symptoms in children, and a hyperimmune response may be present. No detailed temporally associated neurological complications have been documented in pediatric case series so far. Case description: We present the case of a 3-months-old girl with non-febrile repeated seizures in a COVID-19 family setting. The infant started with a mild fever and cough that lasted for 2 days. At day 6 from onset, the girl presented with two focal motor seizures with impaired consciousness and awareness. All investigations ruled out signs of meningo-encephalitis or active epilepsy, including normal electroencephalogram and cerebral magnetic resonance imaging. PCR from nasal and throat swabs was positive for SARS-CoV-2. Remarkably, blood ferritin and D-dimer levels were increased. At day 9, the infant presented another afebrile motor seizure, and levetiracetam dose was modified there was a favorable response within 3 months of the follow-up. Much interest has been raised with regards to host genetic determinants to disease severity and susceptibility to COVID-19. We thus performed whole exome sequencing, revealing a pathogenic frameshift mutation in the PRRT2 gene in both the mother and the infant. The mother had presented two late infantile febrile convulsions with normal outcome afterwards. Discussion: The hyperimmune response described in adult cases with COVID-19 can be seen in infants, even in the absence of respiratory symptoms. Moreover, COVID-19 may present in infants as non-febrile seizures, triggering early onset seizures in infants with a genetic predisposition. In this pandemic situation, precision medicine using massive sequencing can shed light on underlying molecular mechanisms driving the host response to COVID-19.
【저자키워드】 COVID-19, SARS-CoV-2, coronavirus, pediatric COVID-19, non-febrile seizures, afebrile seizures, PRRT2 mutations, benign familial infantile epilepsy, 【초록키워드】 pandemic, Mutation, magnetic resonance imaging, pediatric, children, susceptibility, disease severity, Sequencing, ferritin, nasal, Symptom, host response, outcome, epilepsy, molecular mechanism, cough, coronavirus SARS-CoV-2, Infant, Respiratory tract infections, Infants, infections, PCR, Fever, Mild, Follow-up, Blood, mother, D-dimer level, Convulsion, dose, Seizure, Genetic predisposition, gastroenteritis, Neurological complication, Seizures, respiratory symptoms, genetic determinant, Precision, Exome, pathogenic, healthy children, positive, throat swab, febrile, frameshift, driving, triggering, Host, repeated, afebrile, electroencephalogram, described, performed, raised, case sery, absence, gastrointestinal complaint, hyperimmune response, PRRT2, with COVID-19, 【제목키워드】 Benign,