Genetic deafness in a preterm infant with a critical postnatal course.
OBJECTIVE
We present a case of deafness in a preterm infant with several predisposing factors of an acquired hearing impairment that, however, turned out to have a genetic cause. We describe the severe postnatal course and review the relevant literature.


METHODS
Case report.


METHODS
University-based tertiary neonatal intensive care unit.


METHODS
Preterm infant (gestational age, 26/37; wks).


RESULTS
A preterm infant exhibited hearing impairment after a complicated clinical course with pneumothoraces, a hemodynamically relevant patent ductus arteriosus, treatment with potentially ototoxic drugs, intraventricular hemorrhage, and periventricular leukomalacia. Despite the absence of a family history for deafness, genetic testing was performed. Surprisingly, genetic analysis revealed the presence of two compound heterozygous mutations in the patient's GJB2 gene as the cause for his early-onset nonsyndromic deafness.


CONCLUSIONS
To elucidate the nature of a hearing disorder, it is worthwhile to consider a genetic cause, despite the fact that it may seem unlikely in a severely sick preterm infant with numerous risk factors for a postnatally acquired hearing impairment and without a positive family history.
Koehne
Petra S
PS
Department of Neonatology, Charité, Campus Virchow-Klinikum, Humboldt University, Berlin, Germany.
Hüseman
Dieter
D
Walch
Elisabeth
E
Schuelke
Markus
M
Varon
Raymonda
R
Karbasiyan
Mohsen
M
Aust
Gottfried
G
Obladen
Michael
M
D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D008297:Male; D012307:Risk Factors
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26