title: Asymptomatic congenital cytomegalovirus infection with neurological sequelae: A retrospective study using umbilical cord.
abstract: BACKGROUND
  Congenital cytomegalovirus (CMV) infection causes various neurological sequelae. However, most infected infants are asymptomatic at birth, and retrospective diagnosis is difficult beyond the neonatal period.
  
  
  OBJECTIVE
  This study aimed to investigate the aspects of neurological sequelae associated with asymptomatic congenital CMV infection.
  
  
  METHODS
  We retrospectively analyzed 182 patients who were suspected of having asymptomatic congenital CMV infection with neurological symptoms in Japan. Congenital CMV infection was diagnosed by quantitative polymerase chain reaction amplification of CMV from dried umbilical cord DNA.
  
  
  RESULTS
  Fifty-nine patients (32.4%) who tested positive for CMV were confirmed as having congenital CMV infection. Among 54 congenital CMV patients, major neurological symptoms included intellectual disability (n=51, 94.4%), hearing impairment (n=36, 66.7%) and cerebral palsy (n=21, 38.9%), while microcephaly (n=16, 29.6%) and epilepsy (n=14, 25.9%) were less common. In a brain magnetic resonance imaging (MRI) study, cortical dysplasia was observed in 27 CMV-positive patients (50.0%), and all patients (100%) had cerebral white matter (WM) abnormality. Intracranial calcification was detected by CT in 16 (48.5%) of 33 CMV-positive patients. Cerebral palsy, cortical dysplasia and a WM abnormality with a diffuse pattern were associated with marked intellectual disability.
  
  
  CONCLUSIONS
  Brain MRI investigations are important for making a diagnosis and formulating an intellectual prognosis. Analysis of umbilical cord tissue represents a unique and useful way to retrospectively diagnose congenital CMV infection.
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Japan. Electronic address: uematsu@bk9.so-net.ne.jp.
authors.forename: Mitsugu
authors.initials: M
authors.lastname: Uematsu
authors.affiliation: Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Japan.
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Haginoya
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Japan.
authors.forename: Atsuo
authors.initials: A
authors.lastname: Kikuchi
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Japan.
authors.forename: Naomi
authors.initials: N
authors.lastname: Hino-Fukuyo
authors.affiliation: Department of Medical Microbiology, Mycology and Immunology, Tohoku University School of Medicine, Japan.
authors.forename: Keiko
authors.initials: K
authors.lastname: Ishii
authors.affiliation: Department of Neurology, Gunma Children's Medical Center, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Shiihara
authors.affiliation: Department of Pediatrics, Yamagata University Faculty of Medicine, Japan.
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Kato
authors.affiliation: Department of Pediatrics, Iwate Medical University, Japan.
authors.forename: Atsushi
authors.initials: A
authors.lastname: Kamei
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Japan.
authors.forename: Shigeo
authors.initials: S
authors.lastname: Kure
mesh_terms: D000293:Adolescent; D000328:Adult; D058345:Asymptomatic Infections; D001921:Brain / Q000000981:diagnostic imaging; D002547:Cerebral Palsy / Q000175:diagnosis / Q000453:epidemiology / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D003587:Cytomegalovirus / Q000235:genetics / Q000302:isolation & purification; D003586:Cytomegalovirus Infections / Q000150:complications / Q000151:congenital* / Q000175:diagnosis* / Q000453:epidemiology; D004827:Epilepsy / Q000175:diagnosis / Q000453:epidemiology / Q000503:physiopathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis / Q000453:epidemiology / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D054220:Malformations of Cortical Development / Q000175:diagnosis / Q000453:epidemiology / Q000503:physiopathology; D016133:Polymerase Chain Reaction; D012189:Retrospective Studies; D014021:Tissue Preservation; D014470:Umbilical Cord / Q000382:microbiology; D066127:White Matter / Q000000981:diagnostic imaging; D055815:Young Adult
keywords: Asymptomatic; Congenital CMV infection; Intellectual disability; Magnetic resonance image; White matter abnormality