title: Abnormal white matter lesions with sensorineural hearing loss caused by congenital cytomegalovirus infection: retrospective diagnosis by PCR using Guthrie cards.
abstract: We report on two patients with congenital cytomegalovirus (CMV) infection asymptomatic at birth that was diagnosed retrospectively by polymerase chain reaction (PCR) of CMV DNA using blood stored on Guthrie cards. Neuroimaging studies showed abnormal myelination without any gray matter abnormalities. In the differential diagnosis of patients with abnormal white matter lesions and sensorineural hearing loss, one should consider congenital CMV infection. When investigating the etiology of patients with behavioral problems, migrational disorder, or white matter disease, PCR analysis of CMV DNA using blood stored on Guthrie cards might be helpful.
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryomachi, Aobaku, Sendai 980-8574, Japan. khaginoya@ped.med.tohoku.ac.jp
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Haginoya
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Ohura
authors.forename: Kimiya
authors.initials: K
authors.lastname: Kon
authors.forename: Tsuneo
authors.initials: T
authors.lastname: Yagi
authors.forename: Yukio
authors.initials: Y
authors.lastname: Sawaishi
authors.forename: Keiko Kumura
authors.initials: KK
authors.lastname: Ishii
authors.forename: Tadao
authors.initials: T
authors.lastname: Funato
authors.forename: Shuichi
authors.initials: S
authors.lastname: Higano
authors.forename: Shoki
authors.initials: S
authors.lastname: Takahashi
authors.forename: Kazuie
authors.initials: K
authors.lastname: Iinuma
mesh_terms: D001800:Blood Specimen Collection; D001921:Brain / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D003587:Cytomegalovirus / Q000235:genetics / Q000302:isolation & purification*; D003586:Cytomegalovirus Infections / Q000150:complications / Q000151:congenital* / Q000175:diagnosis*; D004279:DNA, Viral / Q000097:blood; D003937:Diagnosis, Differential; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000209:etiology*; D006801:Humans; D008279:Magnetic Resonance Imaging
chemical_list: D004279:DNA, Viral