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At least 19 recordsLinked to original sources
PubMed1992

[Hereditary unilateral deaf-mutism as a variable manifestation of bilateral deaf-mutism or hearing loss].

A total of 2,519 patients with bilateral severe congenital deafness (deaf-mutism) from Central Switzerland were recorded during the period between 1834 to 1979. More recently, 31 persons with unilateral severe deafness were examined. By constructing genealogical charts going back to the 17th century, at least ten of these unilaterally deaf persons were shown to be related to patients with bilateral deafness (pedigrees I-IV). Some of them exhibited a more or less marked Klein- Waardenburg syndrome. The unilateral deafness of those patients was inherited and not acquired. Congenital unilateral deafness may be understood to be the result of the broad variability of the expressivity of acoustic defects.

Deafness↗
PubMedDate not supplied

[Characteristics of the dermatoglyphics of the hand in congenital deaf-mutism].

Differences in a number of dermatoglyphic signs in patients with endogenous forms of the disease were found when analysing dermatoglyphics among 535 patients with congenital deaf-mutism. These differences may be of certain significance for differentiation between exogenous and endogenous forms of deaf-mutism, that is of great importance for a medico-genetical consultation with respect to progeny prognosis.

Adolescent↗
PubMed1991

Goitre and deaf-mutism.

The occurrence of congenital deafness, mutism and goitre unassociated with cretinism or mental retardation in euthyroid patients is known as Pendred's Syndrome. It has been estimated that 4-10 % of children with congenital deafness suffer from this condition. The perceptive hearing loss is considered to be present at birth although it is frequently not recognized for several years. The cause of the hearing defect is a congenital bilateral malformation of the cochlea of the Mondini type. The goitre is not recognized clinically at birth or in early childhood. It becomes apparent in the pre-pubertal years when it presents as a colloid enlargement progressing to a nodular goitre. The thyroid defect has been shown to be a partial defect in iodine organification leading to the underproduction of thyroxine and subsequent thyroid hyperplasia. The syndrome is caused by a single mutant recessive gene responsible for both the deafness and goitre. Its autosomal mechanism gives an equal incidence in both sexes, unusual in thyroid disease. This article reviews the current aspects of pathogenesis and treatment of this syndrome and reports its occurrence in two Sudanese siblings.

Adolescent↗
PubMed1979

[Deaf-mutism, lymphedema of the lower limbs and hematological abnormalities (acute leukemia, cytopenia) with autosomal dominant transmission].

Report of a syndrome constituted from sensorineural deaf mutism, lymphoedema of lower limbs with early onset and haematological anomalies (aucte myeloblastic leukaemia, cytopenia) in four individuals (three boys and two girls from two generations). This observation suggest autosomal dominant transmission, however recessive transmission cannot be formelly excluded.

Child↗
PubMedDate not supplied

[Surgically implanted electronic apparatus for the rehabilitation of total deafness and deaf-mutism].

An electronic device for multichannel cochlear implant is now available in case of total deafness and deaf-muteness. Any surgical technic of electrodes implantation may use this prosthesis. It consists in two parts, an outside package and an implanted receptor. The external device cut the sound in eight channels, whose frequencies correspond to those of the telephon bands. These eight sinusoidal waves are changed in pulses whose frequency and duration depend on the intensity of the initial signal. All these informations are multiplexed and injected in a high frequency wave to an antenna. Electromagnetic induction supplies through the skin the implanted receptor with power and informations. This receptor is preoperatively connected to the electrodes. With this device and with phoniatric training some speech recognition, and in case of deaf-mute patients voice improvement, may be obtained in some months.

Cochlear Nerve↗
PubMed1988

Endemic goitre and iodine deficiency disorders--aetiology, epidemiology and treatment.

Disorders caused by iodine deficiency continue to be a major health problem in many underdeveloped areas of the world. The most significant is the impaired mental and physical development which occurs as a result of iodine deprivation early in life. Individuals in affected communities show a spectrum of abnormalities which can be attributed to two interacting pathological processes. Fetal hypothyroidism in the first and early second trimester predominantly affects the developing nervous system causing deaf-mutism and mental retardation. If hypothyroidism occurs in the early postnatal period the main abnormalities are growth stunting and related somatic abnormalities. Subclinical deficits of intellectual and motor development may also be found in apparently normal individuals living in affected areas. Although dietary iodine deficiency is clearly the major aetiological factor in both endemic goitre and cretinism, cofactors such as goitrogens, other trace element deficiencies and immunological mechanisms may greatly modify the expression of these disorders. Iodine supplementation programmes form the basis of the public health strategy in combatting these disorders. Where the iodization of foodstuffs is not feasible, an alternative is the use of iodine containing oil which can be given orally or intramuscularly to provide a long-lasting supply of iodine.

Goiter, Endemic↗
PubMed1975

Goiter and deaf mutism.

The occurrence of deaf-mutism and goiter unassocaited with creatinism or mental retardation in euthyroid patients is known as Pendred's Syndrome. It is considered due to a single mutant recessive gene responsible for both the goiter and deafness. The penetrance is high, the intenseness of expressivity may vary within the same family and only one generation is affected. The extremely atypical hyperplasia seen in such goiters has been considered malignant. In 1956 the author reported a family in which 4 of 6 sibilings demonstrated Pendred's Syndrome. Three of the 4 had undergone thyroidectomy, two were considered to have carcinoma. Nineteen years later the family is again reported. The fourth sibling has recently undergone thyroidectomy. This thyroid demonstrated the same atypical hyperplasia as seen in the elder two siblings. The 19 year followup of this family has shown no evidence of recurrence or metastases, indicating that the atypical hyperplasia is probably not malignant. Pendred's Syndrome is described and certain suggestions are made for the counseling of the parents and the treatment and counseling of those children so afflicted.

Adolescent↗
PubMed1990

Community-based study of neurological disorders in rural central Ethiopia.

Between 1986 and 1988 a door-to-door survey was conducted on a stable rural population of 60,820 in central Ethiopia. Trained lay health workers made a complete census and identified cases with symptoms and signs of neurological disorders, using specially designed questionnaires which, in a previous pilot study, were found to have a sensitivity of 91% and specificity of 85%. Neurological disorders in the rural population were epilepsy, postpoliomyelitis paralysis, mental retardation, peripheral neuropathy (mainly due to leprosy), and deaf-mutism with prevalence rates (cases/100,000 population) of 520, 240, 170, 150 and 130, respectively. The prevalence rates of the other less common neurological disorders were 62 for hemiparesis (15 of which were for cerebrovascular accidents), 20 for cerebral palsy, 16 for optic atrophy, 12 for perceptive deafness, 10 for tropical spastic paraparesis, 7 for Parkinson's disease and 5 for motor neuron disease, ataxia and chorea/athetosis. Among related non-neurological conditions, blindness, locomotor disability and deafness were predominant. The significance and role of such a neuroepidemiological study in laying the strategies for the prevention of neurological disorders and rehabilitation of patients are discussed in the context of a developing country.

Adolescent↗
PubMed1976

Embryological pigment epithelial dystrophies.

The embryological pigment epithelial dystrophies may be due, although rather rarely, to chemical factors, such as antibiotics and thalidomide, to ionizing radiation and to infectious factors, syphilis or viral infections, such as mumps, measles, varicella, or cytomegalovirus. The most frequent and the most typical dystrophy is, nevertheless, the rubella epitheliopathy with its widespread scattered black pigment deposits, found predominantly in the posterior pole, and its unaffected visual functions. The macular dystrophy associated with deaf-mutism is also often due to a maternal rubella infection.

Abnormalities, Drug-Induced↗
PubMed1975

Serum thyroid hormone and thyrotropin levels in subjects from endemic goiter regions of New Guinea.

We studied serum thyroid hormone and thyrotropin (TSH) levels in subjects from two regions (Nomane and KarKar) of New Guinea where endemic goiter and/or iodine deficiency are prevalent. The results of the studies in 285 patients from Nomane indicated subnormal serum T4 (mean plus or minus SD, 6.5 plus or minus 2.8 vs 8.4 plus or minus 2.0 mug/1ll ml, for normal Americans, P less than 0.001), supranormal serum T3 (161 plus or minus 51 vs 126 plus or minus 33, ng/100 ml, p less than 0.001), supranormal serum T3/T4 ratio (T3/T4 x 100, 3.1 plus or minus 2.4 vs 1.5 plus or minus 0.4, P less than 0.001) and supranormal serum TSH (16 plus or minus 40 vs 2.7 plus or minus 1.2 muU/ml, P less than 0.001). Serum free T4 and free T3 were measured in 42 subjects. Serum free T4 was subnormal (2.0 plus or minus 0.9 vs 2.8 plus or minus 0.5, ng/100 ml P less than 0.001) and free T3 was elevated (677 plus or minus 150 vs 375 plus or minus 105, pg/100 ml, P less than 0.001). Serum T4 in goitrous patients was significantly lower than that in non-goitrous patients (5.9 vs 6.9 mug/100 ml, P less than 0.005). However, serum T3 and TSH were no different in the presence or absence of goiter. The frequencies of elevated serum TSH or serum T3 in presence of goiter were also no different from those in its absence. The mean values of various thyroid function tests in 37 subjects from KarKar Island were similar to the corresponding values in Nomane subjects. Serum T4, T3 and TSH values in 8 of 13 deaf-mute patients were similar to the corresponding mean values of other inhabitants of the region. However, the remaining 5 patients had deaf-mutism with no appreciable abnormality in thyroid function. Serum TSH correlated inversely with serum T4 (r= -0.31, P less than 0.001). There was, however, no significant relationship between serum TSH and T3 levels. The data suggest that: 1) circulating T4 exerts a significant negative feedback effect on serum TSH level and that this effect of T4 may be even more important than that of circulating T3; 2) factors other than hypothyroidism may be important in the genesis of neurological defects in endemic goiter regions.

Adolescent↗
PubMedDate not supplied

Waardenburg's syndrome: case reports in two Nigerians.

We saw two cases of Waardenburg's syndrome in Nigerian children. A 9-year-old girl had congenital deaf-mutism, high-arched palate, complete heterochromia iridis with pigment mottling in the posterior pole of the eye with the hypochromic iris, dyspigmented frontal scalp hair, a history of vitiligo, but with no dystopia canthorum. An 11-year-old boy had a harelip with cleft palate, heterochromia iridis, blonde fundus on the eye with blue iris, and dystopia canthorum.

Abnormalities, Multiple↗
PubMed1976

[A clinical and cytogenetic investigation carried out in a special institution for mentally retarded patients: preliminary results concerning 82 cases of oligophrenia (author's transl)].

A clinical and cytogenetic investigation carried out in a special institution for mentally retarded patients revealed 82 cases of oligophrenia, amongst whom were found 56 normal karyotypes (68.3%). Out of 25 karyotypes with chromosome anomalies or variants there were 18 cases of trisomy 21 and 7 others: one case of mosaicism with balanced translocation, 46,XX/46,XX,6p+,17q-; one case of partial trisomy, 46,XX,11q+; one case of pericentric inversion, 46,XY,inv(1) (p13,q21); one case with 8% chromosome breaks; three cases of marker chromosomes, of which one was of karyotype 46,XX,1qh+, and two (oligophrenic sisters) 46,XX,21p+. Moreover, there was an interesting case of testicular feminisation in a 9-year-old girl with karyotype 46,XY. The authors' results corroborate those obtained in several important previous studies based on much larger numbers of patients. Amongst the 56 cases where the karyotype was shown to be normal, there were 15 for whom a probably exogenic cause of the oligophrenia could be established, occurring mainly during the perinatal period. The authors were also able to confirm that the genetic factor plays an important role in the incidence of mental retardation, since in 22 examined patients, i.e. 26.8% of all cases, the condition was of familial type. Some interesting observations of idiopathic oligophrenia are reported, as well as several cases with well-known syndromes (Crouzon's and Cornelia de Lange's syndromes, hypothyroidism). Two cases of incest between father and daughter, which had produced children with serious oligophrenia associated, in one case, with deaf-mutism, microphthalmia, microcephaly and sclerocornea, are also discussed. The data show that mental retardation can frequently have a genetic cause, either of mendelian, chromosomal or multifactorial origin.

Adolescent↗
PubMed1990

[Syndrome of optic nerve atrophy, diabetes mellitus and diabetes insipidus].

The paper is concerned with a case of a familial variant of the hereditary De Lawter syndrome, optic nerve atrophy coupled with diabetes mellitus and insipidus. Double diabetes was detected in two brothers. Their uncle suffered from deaf-mutism. Diabetes mellitus was insulin-dependent, diabetes insipidus responded well to adiurekrin, pituitrin, chloropropamide; optic nerve atrophy was characterized by white discs with clearly defined borders. Apparently, the syndrome is based on several mutant genes the action of which manifests as isolated and in different combinations as well.

Child↗
PubMedDate not supplied

["Goiters and the associated idiocy in several countries. Attempts of Vincenzo Malacarne from Saluzzo". Current interpretation of endemic cretinism].

Two hundred years ago V. Malacarne pathologist and surgeon, born in Saluzzo, a town on the foot of the Cottian Alps, published a booklet about goiter and endemic cretinism being diseases prevalent at that time in the countryside. In 1940-45 goiter epidemics spread through these still endemic regions. On the basis of his own observations on autoptic specimens he suggested that the main cause of cretinism was brain damage due to impeded blood circulation by the neck swelling, and invited the pathologists of the Po and Aosta Valleys to send him "il capo ed il collo (the head and the neck)" of these goitrous idiots for a control. Also today we believe the thyroid and the brain to contain crucial factors of cretinism, both sporadic and endemic, and we assume that iodine deficiency is the causal link between the two diseases. Yet we do not know either the factors which damage and prevent, in the myxedematous cretin, postnatal thyroid growth, or the aetiopathogenesis of the deaf-mutism, spastic paraplegia and severe mental deficiency of the neurological non hypothyroid cretin. While these questions remain unanswered, ample evidence has matured during the last two centuries regarding the practical importance of iodine prophylaxis to prevent these scourges, today referred to as "iodine deficiency disorders". Some recent findings on diencephalon inflammation in human and canine goitre are quoted.

Animals↗