Journal of Korean medical science
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J. Korean Med. Sci. · Aug 2020
Audiologic Status of Children with Confirmed Cytomegalovirus Infection: a Case Series.
Congenital cytomegalovirus (CMV) infection is the most common non-genetic cause of sensorineural hearing loss (SHNL) in children. Only about 10% to 15% of children with congenital CMV are symptomatic, and most are not diagnosed at birth. About 7% to 15% of clinically asymptomatic patients may develop later complications, including SNHL, which is the most common sequela in clinically asymptomatic patients. In this study, hearing status was investigated in children with confirmed CMV infection and neonatal hearing screening (NHS) histories were reviewed to explore hearing loss caused by CMV. ⋯ Hearing loss is a serious complication of CMV infection in children. Our results highlight the importance of timely audiological evaluation in children with clinically symptomatic CMV infection even if they pass NHS.
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J. Korean Med. Sci. · Aug 2020
Case ReportsThe First Case of an Infant with Familial A20 Haploinsufficiency in Korea.
Haploinsufficiency of A20 (HA20) is a newly described autoinflammatory disease caused by loss-of-function mutations in the TNFAIP3 gene. Clinical phenotypes are heterogenous and resemble Behçet's disease, juvenile idiopathic arthritis, inflammatory bowel disease, or periodic fever syndrome, with symptoms developing at an early age. Here, we report the first case of infantile familial HA20 in Korea, which mimics neonatal lupus erythematosus (NLE). ⋯ Whole-exome sequencing was conducted to identify a possible genetic disorder, which manifested as pathogenic variant nonsense mutation in the TNFAIP3 gene, leading to HA20. In conclusion, HA20 should be considered in the differential diagnosis of an infant with an early-onset dominantly inherited inflammatory disease that presents with recurrent oral and genital ulcerations and fluctuating autoantibodies. Additionally, it also should be considered in an infant with suspected NLE, whose symptoms and abnormal autoantibodies persist.