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Genetic deafness in a preterm infant with a critical postnatal course
Petra S Koehne1, Dieter Hüseman, Elisabeth Walch
1Department of Neonatology, Charité, Campus Virchow-Klinikum, Humboldt University, Berlin, Germany.
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.
Design:
Case report.
Setting:
University-based tertiary neonatal intensive care unit.
Patient:
Preterm infant (gestational age, 26/37; wks).
Measurements And Main 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.
Conclusion:
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.
