Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies · 2006
Genetic deafness in a preterm infant with a critical postnatal course.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
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Koehne Petra S, Hüseman Dieter, Walch Elisabeth, Schuelke Markus, Varon Raymonda, Karbasiyan Mohsen, Aust Gottfried, Obladen Michael
Аннотация
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.
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.