RESUMO
Purpose@#We aimed to analyze the clinical characteristics, recurrence, neurological outcomes, and the impact of coronavirus disease 2019 pandemic in children who visited 2 emergency departments (EDs) with febrile seizure (FS). @*Methods@#We retrospectively reviewed medical records of 3,172 episodes, involving 2,510 children aged 6-60 months whose diagnoses were FSs at the EDs in 2 hospitals from 2013 through 2022. Through the review, we analyzed clinical characteristics and associated factors for the recurrence of FS. As a sub-analysis, the variables were compared between before (2017-2019) and during (2020-2022) the pandemic. @*Results@#A total of 3,172 FS-related visits to the EDs were found in 2,510 children. Of these, 890 children (35.5%) underwent recurrences of FS. The recurrence of FS was associated with boys (63.3% vs. 57.8%; P = 0.007), seizures lasting longer than 5 minutes (16.6% vs. 12.7%; P = 0.007), family history of FS (23.7% vs. 16.2%; P < 0.001), complex FS (13.3% vs. 8.0%; P < 0.001), and epilepsy diagnosed thereafter (9.1% vs. 3.0%; P < 0.001). During the pandemic, we noted a decrease in the number of FS-related visits to the EDs (from 1,274 to 383), an increase in the percentage of complex FS (9.3% vs. 13.8%; P = 0.012), and a decrease in the percentage of recurrent FS (49.4% vs. 33.4%; P < 0.001), compared to before the pandemic. @*Conclusion@#Our study identified factors associated with recurrence of FS, and confirmed the increase in complex FS with the decrease in the recurrence during the coronavirus disease 2019 pandemic. These findings could be helpful when caring for children with FS in EDs.
RESUMO
Spinal muscular atrophy(SMA) is the second most common fatal disease of childhood with autosomal dominant mode of inheritance, and in its less severe form the third most common neuromuscular disease of childhood after Duchenne muscular dystrophy. The genetic defect was found to be on the long arm of chromosome 5(5q11.2-q13.3) where many genes and microsatellite markers were missing. One of the most important genes is the Survival Motor Neuron(SMN) gene which is homozygously missing in 90% of SMA patients. Another important gene, the Neuronal Apoptosis Inhibitory Protein(NAIP) gene was found to be defective in 67% of SMA type I patients. Studies so far suggest SMA occurs when the genes on the long arm of chromosome 5 are mutated or deleted. Recently our hospital encountered 2 SMA patients of type I and II respectively. These patients both had homozygously defective SMN genes but intact NAIP genes. We are reporting these cases with bibliographic review and discussion. Korean SMA patients presumably have defects in SMN genes similar to those found in European patients, although the siginificance of NAIP genes remains to be established. SMN gene defects can be easily diagnosed using PCR and restriction enzymes, and this method could be applied towards convenient prenatal diagnosis and towards screening for family members at risk.