Genetic hearing impairment.

INTRODUCTION: Three out of 1000 newborns are affected by a hearing loss, one of these being profound congenital deafness, whereas in the population of children treated in the intensive care unit, the incidence is 1:50. The purpose of this paper is to show in which genetic diseases and syndromes that hearing impairment can occur. DISCUSSION: A large number of pathological conditions, (genetic, infectious, and metabolic) can manifest themselves in a conductive or sensorineural hearing loss. Nonsyndromic autosomal recessive hearing loss is found in 56 % of cases, syndromic recessive in 30 %, nonsyndromic autosomal dominant in 12 %, and nonsyndromic related to the X chromosome and mitochondrial in 2 % of the cases. CONCLUSION: To make a diagnosis, the knowledge of clinical features of genetic syndromes is of paramount importance. Complete evaluation includes pediatric examination, bone and soft tissue radiological visualization, i.e., computed tomography and nuclear magnetic resonance, and finally genetic tests in cases where a hereditary disorder is suspected or identified.

Branchiootorenal and branchiooculofacial syndrome.

INTRODUCTION: Branchiootorenal syndrome (BOR) is an autosomal dominant disorder. One of very similar syndromes is branchiooculofacial syndrome (BOF), with incomplete penetrance and variable expression. The overlap between BOR syndrome and BOF syndrome includes external ear abnormalities with hearing loss, lachrymal duct obstruction, branchial cleft remnants, and renal or urethral defects. The relationship between these 2 syndromes is still unclear. CASE OUTLINE: We present 2 patients with these rare syndromes: a girl who has fulfilled the diagnostic criteria for BOR syndrome and a boy who has more than fulfilled the criteria for BOF syndrome. The diagnosis of BOF syndrome was performed only on the basis of clinical findings, without genetic confirmation. CONCLUSIONS: Differential diagnosis between these similar syndromes with phenotypic variation is delicate especially without genetic examinations.

Sudden hearing loss in children.

Sudden sensorineural hearing loss (SSHL) is defined as a unilateral or bilateral sensorineural hearing loss with at least 30 dB decrease in threshold in 3 contiguous test frequencies occurring over 72 hours or less. It is very rare in children. Sudden hearing loss is a symptom that suggests that there is a problem in the inner ear, surrounding structures, or the whole organism. The etiology and development of this disorder are still not fully understood. The literature contains numerous models of the pathogenesis of SSHL, with childhood SSHL having certain peculiarities. In practical terms, the multifactorial nature of SSHL is important in the choice of diagnostic methods and treatment methods. It is important to determine the cause and effect relationship between the underlying disease and hearing loss.