This case report describes a 4 year old boy with the unique triad of lipomatous myelomeningocele, congenital hypothyroidism secondary to thyroid agenesis, and sensorineural deafness. While associations between deafness and abnormal thyroid function and deafness and sacral lipoma have previously been described, the constellation of findings in this patient has not been reported.

Hereditary non-syndromic hearing loss (NSHL) has a high genetic heterogeneity with about 152 genes identified as associated molecular causes. The present study aimed to detect the possible damaging variants of deaf probands from six unrelated Chinese families. After excluding pathogenic/likely pathogenic in most common genes, GJB2 and SLC26A4, 12 prelingual deafness autosomal recessive inherita...

: Varicella, or chickenpox, is a highly contagious disease transmitted by the varicella zoster virus (VZV). Idiopathic sudden sensorineural hearing loss (ISSNHL) has been defined as of at least 30 dB over three frequencies on audiogram within days and with an uncertain cause. Deafness caused varicella-zoster occasionally occurred in Ramsey hunter syndrome but associated chickenpox rare. We pres...

Cortical deafness in a patient with multiple sclerosis is reported. Complete recovery from total deafness was seen following stages of auditory agnosia and pure word deafness. The otological and neurophysiological studies suggested lesions in subcortical white matter. This report stresses the rarity of the condition, its subcortical origin and good prognosis.

causes so-called Eustachian deafness. Wax and foreign bodies are easily removed by syringing or manipulation (1), and swellings and growths by appropriate means. Eustachian deafness is relieved by inflating or catheterising the Eustachian tubes. Thesie methods yield very good and prompt results. Adenoids sometimes cause Eustachian deafness, which is relieved by removing them. A good illustratio...

BACKGROUND Hereditary forms of hearing loss are classified as syndromic, when deafness is associated with other clinical features, or non-syndromic, when deafness occurs without other clinical features. Many types of syndromic deafness have been described, some of which have been mapped to specific chromosomal regions. METHODS Here we describe a family with progressive sensorineural hearing l...

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 ...

To screen for congenital deafness, brainstem auditory-evoked potential (BAEP) testing was performed on 1031 Dalmatians from three geographically separated areas. Phenotypic marker assessment was done to determine markers possibly associated with deafness. Markers included sex, hair coat color, pigmentation of different areas of skin (eye rims, nose, and ears), presence of a patch, spot size and...

INTRODUCTION Sudden deafness is characterized by an abrupt onset, often idiopathic and tinnitus is present, and becomes the main complaint in up to 80% of patients. OBJECTIVE To review carefully all studies of the past 10 years on sudden deafness and tinnitus and analyze the effectiveness of oral and intratympanic steroids for tinnitus control in eight patients with sudden deafness and severe...

Hearing loss is the most widespread sensory disorder, with an incidence of congenital genetic deafness of 1 in 1600 children. For many ethnic populations, the most prevalent form of genetic deafness is caused by recessive mutations in the gene gap junction protein, beta 2, 26 kDa (GJB2), which is also known as connexin 26 (Cx26). Despite this knowledge, existing treatment strategies do not comp...