No abstract

PurposeBell’s palsy is characterized by sudden onset of unilateral facial weakness. The use of corticosteroids for childhood Bell’s palsy is controversial. This study aimed to identify clinical characteristics, etiology, and laboratory findings in childhood Bell’s palsy, and to evaluate the efficacy of corticosteroid treatment.MethodsWe conducted a retrospective analysis of children under 19 years of age treated for Bell’s palsy between January 2009 and June 2017, and followed up for over 1 month. Clinical characteristics, neuroimaging data, laboratory findings, treatments, and outcomes were reviewed. Patients with Bell’s palsy were divided into groups with (group 1) and without (group 2) corticosteroid treatment. Differences in onset age, sex, laterality, infection and vaccination history, degree of facial nerve palsy, and prognosis after treatment between the groups were analyzed.ResultsOne hundred patients were included. Mean age at presentation was 7.4±5.62 years. A total of 73 patients (73%) received corticosteroids with or without intravenous antiviral agents, and 27 (27%) received only supportive treatment. There was no significant difference in the severity, laboratory findings, or neuroimaging findings between the groups. Significant improvement was observed in 68 (93.2%) and 26 patients (96.3%) in groups 1 and 2, respectively; this rate was not significantly different between the groups (P=0.48).ConclusionChildhood Bell’s palsy showed good prognosis with or without corticosteroid treatment; there was no difference in prognosis between treated and untreated groups. Steroid therapy in childhood Bell’s palsy may not significantly improve outcomes.

The clinical characteristics and neurodevelopmental outcomes of preterm infants with persistent PVE were not different from those of infants with normal findings. Our study supports the concept that persistent PVE without cystic change may be a benign finding.

Background and Objectives: Chromosomal microarray (CMA) is a first-tier genetic test for children with developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), and multiple congenital anomalies (MCA). In this study, we report our experiences with the use of CMA in Korean children with unexplained DD/ID.Methods: We performed CMA in a cohort of 308 children with DD/ID between January 2010 and September 2020. We also retrospectively reviewed their medical records. The Affymetrix CytoScan 750 K array with an average resolution of 100 kb was used to perform CMA.Results: Comorbid neurodevelopmental disorders were ASD (37 patients; 12.0%), epilepsy (34 patients; 11.0%), and attention deficit hyperactivity disorders (12 patients; 3.9%). The diagnostic yield was 18.5%. Among the 221 copy number variants (CNVs) identified, 70 CNVs (57 patients; 18.5%) were pathogenic. Deletion CNVs were more common among pathogenic CNVs (PCNVs) than in non-PCNVs (P < 0.001). The size difference between PCNVs and non-PCNVs was not significant (P = 0.023). The number of included genes within CNV intervals was significantly higher in PCNVs (average 8.6; 0–347) than in non-PCNVs (average 47.5; 1–386) (P < 0.001). Short stature and hearing difficulty were also more common in the PCNV group than in the non-PCNV group (P = 0.010 and 0.070, respectively).Conclusion: This study provides additional evidence for the usefulness of CMA in genetic testing of children with DD/ID in Korea. The pathogenicity of CNVs correlated with the number of included genes within the CNV interval and deletion type of the CNVs, but not with CNV size.

Background: Choroid plexus papillomas (CPPs) are rare, usually benign, neoplasms originating in the central nervous system. In this study, we present the first case of a giant airway-obstructing CPP in the pharynx of a newborn. Case presentation: A cystic mass located in the pharynx was noted in a fetus at the 29th week of gestation. Elective cesarean section was performed at the 38th week of gestation with successful intubation and ex utero intrapartum treatment. On computed tomography, there was a huge airway-obstructing cystic mass in the choana and pharynx. Elective surgery with total excision was performed, and histological examination confirmed the diagnosis of CPP. Conclusion: We report the first case of an extracerebral airway-obstructing CPP in the pharynx of a newborn. Radiologic examinations are not enough for the diagnosis of CPPs, and complete excision of the tumor with histological confirmation is indispensable for accurate diagnosis and treatment.