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Pathology of prelingual profound deafness: magnitude of labyrinthitis fibro-ossificans.

Quantitative histologic studies were performed on 15 temporal bones from eight adult persons who were known to have prelingual bilateral profound hearing loss. The pathologic changes are characterized by severe degeneration of the structures of the cochlear duct, often with degeneration of the vestibular sense organs, causing a reparative host response that features osteoneogenesis and fibrous proliferation followed by retrograde neuronal degeneration. The pathology is consistent with meningogenic bacterial or viral labyrinthitis that occurred subclinically or went undiagnosed. Bone and fibrou

Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness.

This study introduces a patient who has thiamine and thiamine pyrophosphokinase (TPKase) enzyme deficiency associated with diabetes mellitus, sensorineural deafness and thiamine-responsive megaloblastic anemia. Diabetes mellitus was diagnosed when she was 20 months old. After 1 year, macrocytic anemia developed and the thiamine therapy was started at 75 mg/day. During the follow-up, the insulin requirement decreased and even ceased, and macrocytic anemia improved with thiamine treatment. After thiamine therapy was ceased an increase in insulin requirement was observed and macrocytic anemia dev…

Diabetes mellitus, diabetes insipidus, optic atrophy and deafness (DIDMOAD syndrome).

Two patients with diabetes mellitus (DM), diabetes insipidus (DI), optic atrophy (OA), deafness (D) and dilatation of the urinary tract-the so-called DIDMOAD syndrome are presented. In one of the patients, the presenting components were DI and OA. In the second case, DM was the first manifestation to be diagnosed, and in this patient the course of the syndrome was complicated by associated epileptical activity disorders, and later septicemia. The admission of these patients led us to review the literature describing this syndrome.

Ulcerative colitis and giant cell arteritis associated with sensorineural deafness.

Sensorineural deafness is rarely associated with both ulcerative colitis and giant cell arteritis. A patient is described in whom acute sensorineural deafness occurred in association with episcleritis, ulcerative colitis and clinical features suggesting giant cell arteritis.

Sudden deafness in a man with thyrotoxic hypokalemic periodic paralysis.

We treated a 32-year-old man with hearing loss in the right ear followed by severe muscle weakness of the extremities. When admitted to hosp … 80th hospital day with the continuous medication of Methimazole. This is a very rare case of sudden deafness complicated by hypokalemic paralytic attacks. Circulatory insufficiency and electrolytes imbalance in the right inner ear was assumed to have caused the deafness.

Acute profound deafness in Ramsay Hunt syndrome. Two case reports.

Two patients with sudden progressive profound hearing loss resulting from Ramsay Hunt syndrome are reported. Case 1: A 63-year-old woman was admitted to Jichi Medical School Hospital with sudden, progressing deafness of the left ear, vertigo, sore throat, and hoarseness. An otoscopic examination revealed the external ear and the tympanic membrane to be normal. Pure-tone audiometry revealed profound deafness in the left ear. A horizontal nystagmus in the non-affected direction was observed by gaze nystagmus test. An endoscopic examination revealed herpetic vesicles and shallow ulcers on the lef…

Familial microtia, meatal atresia, and conductive deafness in three siblings.

We report on three sibs with right-sided microtia, meatal atresia, and conductive deafness. Two of the sibs also had right-sided palatoplegia. These sibs may have the autosomal-recessive form of microtia (No. 25180, McKusick [1983]), of which few familial cases are known to date. The malformation is due to a disturbance of the development of the first and second branchial arches. Review of the literature shows that microtia and meatal atresia with or without middle-ear involvement are developmental field defects which, either isolated or as a part of the facio-auriculo-vertebral spectrum, may …

Genetic disposition to deafness in maternal rubella: fact or myth?

Eleven parental pairs, each having a child deaf from maternal rubella, were evaluated with a battery of specialized audiologic tests. The tests which included measurement of Békésy hearing threshold and the stapedial reflex threshold at 0.5, 1.0, and 2.0 kHz were used to test the theory that these parents have a predisposition to elevated reflex thresholds, Békésy hearing threshold dips, and a history of familial deafness. The present study failed to find any history of familial deafness or Békésy dips. Elevated reflex thresholds were noted in seven couples. This proportion was shown to be sig…

Occurrence of cyclopia, myelomeningocele, deafness, and abducens paralysis in siblings.

As holoprosencephaly without chromosome defect may be associated with other CNS-related anomalies such as mental retardation, mental illness, facial paralysis, endocrine disorders, deafness, spina bifida, and myelomeningocele, we present a family in which one girl had a myelomeningocele, a brother had orbital hypotelorism, facial and cerebral asymmetries, cerebral palsy, abducens paralysis, and inner ear deafness. A 3rd pregnancy was terminated at 16 weeks; the fetus had cyclopia. A common cause is discussed in these cases and in those families in which holoprosencephaly and additional malform…

[Malformation syndrome with sensorineural deafness and disturbed development of speech].

Report on a boy in whom, apart from high-grade sensorineural deafness and disturbed development of speech with possible mental impairment, multiple malformations were found, mainly in the area of the foregut: multiple composite compound odontoma, hypoplasia of the jaws, submucous cleft palate, membrana bucco-pharyngea persistens, dystopia of the palatine tonsils and rectum stenosis.

Этиологические факторы, связанные с детской глухотой в европейском сообществе.

В 1977 году было проведено многонациональное совместное исследование по проблемам глухих детей. Цель заключалась в том, чтобы охватить всех детей в возрасте 8 лет с потерей слуха на уровне 50 дБ или более, проживающих в девяти странах Европейского экономического сообщества. Была получена информация о распространенности глухоты, распределении средней потери слуха, аэтологии и связанных с этим инвалидности.

Совпадение в аннотации оригинала
A multinational collaborative study on deaf children was carried out in 1977. The intention was to include all children aged 8 years with a hearing loss of 50 dB or worse, residing in the nine countries of the European Economic Community. Information was obtained on the prevalence of deafness, the distribution of mean hearing loss, aetiology and associated d…

Progressive bulbar paralysis associated with neural deafness. A nosological entity.

A complete autopsy verification of progressive bulbar palsy associated with neural deafness was performed. Hearing loss and speech difficulties developed in a five-year-old girl. When she was 24 years old, clinical examination demonstrated deafness and bulbopontine paralysis together with retinitis pigmentosa, peripheral amyotrophies, pyramidal signs, and ataxia. The patients died at 27 years and the autopsy disclosed degenerative changes characterized by simple atrophy and loss of neurons accompanied by gliosis and loss of myelinated fibers. The structures principally affected were the anteri…

[Genetically determinded deafness; 5 cases of Pendred's syndrome (author's transl)].

In our experience, Pendred's Syndrome is the most frequent one clinically seen of 124 syndromes with genetically determined deafness. It is defined as a triad: congenital perceptive hearing loss, goiter, and an abnormal perchlorate test. Inheritance is by an autosomal-recessive pattern. In 5 patients seen by us--one of whom had experienced multiple episodes of sudden deafness--the difficulty of diagnosis is shown. We also emphasize the need for genetic counselling in families with the known syndrome.

Autosomal dominant atresia of the auditory canal and conductive deafness.

We report autosomal dominant atresia and/or stenosis of the external auditory canal with or without conductive deafness. In the family described here the anomaly had occurred in 12 individuals in five generations. Penetrance was very high, expressivity quite variable. The clinical, audiometric, radiographic, and operative findings in three patients (grandfather, father, and son) are presented. This condition has been reported only once previously.

[Viral infection and sudden perceptive deafness (serological examinations) (author's transl)].

Among the numerous and various known etiologies of sudden deafness viral infection is discussed. Therefore sera of 126 patients were examined for viral antibodies to Influenza, Parainfluenza, Mumps, Measles, RS-virus, Rubella, Herpesvirus and Adenovirus. They were compared to sera of healthy patients. Our results suggest no strong association between sudden deafness and viral infection.

Diagnostic delay in deafness - the effect of active case finding.

Impaired hearing, sensorineural or conductive, was detected in 464 (25 per cent) of the 1,876 children tested during visits with a mobile hearing clinic in rural northern Ontario. Seven severe to profoundly deaf preschool children were identified; expected prevalence in this population is 5--10 preschoolers. Three older children (7--15 years of age), also, were found to have severe to profound deafness that previously had been undetected. Previously, initial identification of severe sensorineural hearing loss in this age group in these areas was at an average age of 30 months. Since visits by …

Autosomal recessive sensorineural-conductive deafness, mental retardation, and pinna anomalies.

Three siblings, a boy and two girls aged 11, 9, and 4 years, were found to have a congenital disorder characterized by malformed, low-set ears and sensorineural-conductive hearing loss. Variable expressivity was evident, since the boy had both types I and III of microtia and his two sisters had only type I. The normal parents were third cousins. The analysis of these findings permits the identification of a distinct nosologic entity due to the homozygocity of an autosomal recessive mutation.