Sensorineural Hearing Loss in a Child with Succinic Semialdehyde Dehydrogenase Deficiency.

Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal-recessive disorder of gamma-aminobutyric acid (GABA) metabolism, resulting in accumulation of GABA and gamma-hydroxybutyric acid (GHB) in physiological fluids. Approximately 450 patients have been diagnosed worldwide with this inherited neurotransmitter disorder. We report on a five-year-old male patient, homozygous for the pathogenic variant (NM_170740:c.

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.

Characteristics of brain stem auditory evoked potentials in children with hearing impairment due to infectious diseases.

Among objective audiologic tests, the most important were tests of brain stem auditory evoked potentials. The objective of the study was to test the configuration, degree of hearing loss, and response characteristics of auditory brain stem evoked potentials in children with hearing loss occurred due to infectious disease. A case control study design was used.

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.