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. 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.

Ménière's disease and various types of vertigo in children.

Vertigo in children is less frequent than in adults, and examiners of patients showing these symptoms must rely on parents' or relatives' observations and details. Besides the equilibrium disorders caused by hereditary malabsorption syndromes or lesions in the peripheral and central vestibular structures, we know of typical diseases that are associated with vertigo and hearing problems and develop during childhood. One of them is Ménière's disease. Careful examinations are necessary to differentiate these illnesses from other vestibular disturbances accompanied by vertigo. Neurootological examinations in children, especially in small children, are more difficult than in adults. The reasons are the time-consuming examination necessary in the case of children and the problems connected with a plethora of troublesome individual tests. Our study gives an overview of Ménière's disease and related vestibular disturbances occurring during childhood.

Tinnitus in childhood.

All of 1,420 children seen for clarification of a hearing disorder or to follow up for known difficulty in hearing were questioned as to whether they experienced tinnitus. The interview was carried out after a hearing test was conducted, which was based on play audiometry or normal pure-tone threshold audiometry, depending on the age of the child. When being interviewed, 102 children reported that tinnitus had appeared or was still present. Seventy-five children (73.5%) demonstrated difficulty in hearing in one or both ears, whereas 27 children (26.5%) had normal hearing in both ears. The most frequently obtained information (29.4%) was the progression of an existing hearing loss. Meningitis is an important cause of hearing loss and of tinnitus and could be identified in 20% of our patients. We also considered as a cause of tinnitus skull or brain trauma, acute hearing loss, and stapes surgery. However, the mechanisms of tinnitus development were not immediately clear in a large proportion of the children studied: Problems included central sensory perception (14.7%) and emotional factors (11.8%). No additional information that might lead to an understanding of the hearing loss was available for 14.7% of the patients studied. Tinnitus is a frequent symptom in childhood and, because children seldom complain about their tinnitus, such hearing problems that they report must always be taken seriously. The diagnosis should exclude metabolic disturbances, possible damage to the sensory level of the central nervous system, and circulatory disturbances. In addition, the physician should always consider emotional problems and disturbances of perception.