Sensorineural hearing loss in a pediatric population: association of congenital cytomegalovirus infection with intracranial abnormalities.
OBJECTIVE
To examine the incidence of congenital cytomegalovirus (CMV) infection relative to common genetic etiologies of hearing loss in a pediatric population with sensorineural hearing loss (SNHL), and to characterize intracranial radiological abnormalities in patients with CMV-associated hearing loss.


METHODS
Retrospective study.


METHODS
Academic tertiary care center.


METHODS
A total of 112 pediatric patients with confirmed SNHL.


METHODS
The association of congenital CMV infection status with abnormal brain magnetic resonance imaging (MRI) scans and the frequencies of congenital CMV infection, gap junction β-2 (GJB2) mutations, and the mitochondrial DNA (mtDNA) 1555A>G mutation in children with SNHL.


RESULTS
Of 109 patients, 11 (10%) had positive results for CMV DNA; 10 of the 11 had normal GJB2 sequence and had negative test results for the mtDNA 1555A>G mutation. Brain MRI scans for 97 patients demonstrated a higher proportion of abnormalities in patients with positive CMV test results (80%) compared with those with no detectable CMV DNA (33%) (P = .006). GJB2 mutations and the mtDNA 1555A>G mutation were seen in 10 of 88 patients (11%) and 1 of 97 patients (1%) with SNHL, respectively.


CONCLUSIONS
The presence of brain abnormalities in most patients with congenital CMV infection suggests that neurological damage in otherwise asymptomatic patients may not be limited to SNHL. Congenital CMV infection accounted for a significant proportion of patients with SNHL, with an incidence rate comparable with that of GJB2-related SNHL.
Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Campus Box 7600, Chapel Hill, NC 27514, USA. jkimani@unch.unc.edu
Jane W
JW
Kimani
Craig A
CA
Buchman
Jessica K
JK
Booker
Benjamin Y
BY
Huang
Mauricio
M
Castillo
Cynthia M
CM
Powell
Karen E
KE
Weck
D001309:Auditory Threshold; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D003586:Cytomegalovirus Infections / Q000151:congenital*; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics; D004279:DNA, Viral / Q000302:isolation & purification; D016057:Evoked Potentials, Auditory, Brain Stem; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000209:etiology*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D012189:Retrospective Studies
D017630:Connexins; D004272:DNA, Mitochondrial; D004279:DNA, Viral; C000607042:GJB2 protein, human; D000072259:Connexin 26