We present a male infant with hypertelorism, severe myopia and sensorineural deafness, diaphragmatic hernia, and proteinuria. This patient combines features of two distinct genetic conditions, the syndrome of diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness (MIM 222448), and the facio-oculo-acoustico-renal syndrome (MIM 227290), which i...

Acute profound deafness is a broad term that is used to describe severe deafness that occurs acutely or suddenly. Of the diseases that are studied by the research team of the Ministry of Health and Welfare named after this term, sudden deafness, bilateral idiopathic sensorineural hearing loss, steroid-responsive sensorineural hearing loss, and mumps deafness without parotid swelling will be dis...

Sensorineural hearing loss is currently the most important medical and social problem an urgent of neurology. According to various researchers, from 6% 36% worlds population suffers ear pathology, which 60-80% have sensorineural impairment (damage cochleo-vestibular nerve receptor - cochlea inner ear).Deafness common defect in sensory systems children occurs 1: 750 cases, adults 4-36% depending...

Isolated bilateral deafness is a rare but possible symptom of vertebrobasilar ischemia, primarily due to occlusion of the anterior inferior cerebellar arteries or their branch, the internal auditory artery. We reported on uncommon case of sudden bilateral sensorineural hearing loss without typical neurological symptoms resulting from vertebrobasilar ischemia. We performed the available examinat...

BACKGROUND Congenital sensorineural deafness is an inherited condition found in many dog breeds, including Australian Stumpy-tail Cattle Dogs (ASCD). This deafness is evident in young pups and may affect one ear (unilateral) or both ears (bilateral). The genetic locus/loci involved is unknown for all dog breeds. The aims of this study were to determine incidence, inheritance mechanism, and poss...

Mitochondrion harbors its own DNA, known as mtDNA, encoding certain essential components of the mitochondrial respiratory chain and protein synthesis apparatus. mtDNA mutations have an impact on cellular ATP production and many of them are undoubtedly a factor that contributes to sensorineural deafness, including both syndromic and non-syndromic forms. Hot spot regions for deafness mutations ar...

The author explains the clinical presentation, pathophysiology, diagnostic work-up, and management of sudden deafness. "Sudden" deafness is defined as sensorineural hearing loss of 30 decibels or more in at least 3 contiguous frequencies occurring over less than 3 days. The pathophysiology of sudden deafness is poorly understood. Various theories have been proposed, including those attributing ...

An A to G transition at nucleotide 3,243 in the tRNA(Leu)(UUR) gene of mitochondrial DNA has recently been identified as a pathogenic point mutation which is associated with diabetes mellitus and sensorineural deafness in several pedigrees. We have also reported a family showing the association of deafness and diabetes mellitus as the predominant clinical features with this mutation. Audiologic...