Acute Childhood Encephalitis and Encephalopathy following Infectious Symptoms: a Single Center Study / 대한소아신경학회지

PURPOSE: Acute encephalitis and encephalopathy are preceded by respiratory or enteric infection, whose pathogens can be detected more easily with advanced tools. However, studies for pathogens in Korea remain scarce. We investigated the clinical characteristics and pathogens in childhood encephalitis and encephalopathy. METHODS: We retrospectively reviewed the records of children with acute encephalitis and encephalopathy admitted to our hospital between March 2013 and February 2017. RESULTS: The 51 included patients were aged 5.8±4.4 years (mean±standard deviation), comprising 36 with encephalitis (70.6%) and 15 with encephalopathy (29.4%). Respiratory symptoms (62.7%) were more common than enteric symptoms (45.1%). Brain MRI was abnormal in 54.9%, and leu-kocytosis in the cerebrospinal fluid was noted in 41.2%. The prevalence of diseases was highest in winter (29.4%). In encephalitis, eight patients had infective encephalitis (15.7%), comprising enterovirus (N=4), Epstein-Barr virus (N=3; one with HHV6 coinfection), and tsutsugamushi in-fection (N=1). The 11 patients with ADEM included 1each with adenovirus, influenza A, and mycoplasmal infection. One patient with Bickerstaff-brainstem encephalitis had mycoplasmal pneumonia. In the 15 patients with encephalitis of unknown etiology, rhinovirus (N=3), influenza A (N=2), adenovirus (N=1), and mycoplasmal infection (N=6) were found. In the encephalopa-thy group, three patients had abnormal brain MRI: ANE with influenza A, AESD with exanthem subitum, and norovirus-associated MERS. In the remaining 12 patients, influenza A (N=2), ade-novirus, rhinovirus, enterovirus, norovirus (N=1 for each virus), and mycoplasmal infection (N=4) were found. CONCLUSION: Acute childhood encephalitis and encephalopathy were the most prevalent in winter and were fre-quently associated with respiratory infections.

FOXP3 Mutation in a Patient with Proportional Microcephaly and Developmental Delay / 대한소아신경학회지

Most cases of microcephaly with growth failure and developmental delay have a genetic or metabolic etiology. Whole-exome sequencing (WES) has uncovered many causative genes and has also broadened their phenotypic spectrum. The present study applied WES to a boy with microcephaly, growth failure, developmental delay, seizures and atopic dermatitis, which reveal an unexpected frame-shift mutation (c.1248_1253delinsCT, NM_014009.3; p.Lys416Asnfs, NP_054728.2) in the forkhead box P3 gene (FOXP3). Mutations of this gene are known to result in immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. Mutation of FOXP3 was reverified by Sanger sequencing in the proband and his carrier mother. Flow-cytometry expression study of FOXP3 in peripheral white blood cells showed that the mean fluorescence intensity of FOXP3 was lower in the proband than in a normal control. We report a mild form of IPEX syndrome without chronic protracted diarrhea or major infections, instead presenting with proportional microcephaly, growth failure, developmental delay, seizures and atopic dermatitis.