[Evaluation of acupuncture treatment for neurosensory deafness and deaf-mutism based on 20 years of experience].
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Acupuncture Therapy↗
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[Congenital deaf-mutism and ophthalmologic problems. Study of a group of deaf-mute-blind and deaf-mute children with tapetoretinal degeneration].
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Adolescent↗
Endemic cretinism in Sicily.
This work reports the presence of endemic cretinism in a small district located inside an endemic goiter area in north-eastern Sicily, personally described. The study covers 19 mental defectives (11 females and 8 males, mean age 35.8 +/- 15.5 yr) selected on the basis of severe mental retardation recognized by the local doctors. No systematic survey for cretinism was carried out in the total population. Marked mental retardation was evident in all subjects. Nine of them exhibited clinical and biochemical signs of hypothyroidism (myxedematous cretins). The 10 others were clinically euthyroid and had deaf-mutism and/or pyramidal tract dysfunction (neurological cretinism). Familial aggregation of cretinism was also observed. In both myxedematous and neurological cretins and urinary iodine excretion was very low, but not significantly different from that recorded in the euthyroid controls of the same area. The data available do not clarify the pathogenesis of endemic cretinism in Sicily. However, the marked height retardation, the observation of delayed bone maturation and the severity of mental deficiency suggest that thyroid failure was present in early life. The presence of endemic cretinism today in Sicily constitutes a strong argument in favour of the immediate introduction of adequate iodine prophylaxis.
Adolescent↗
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↗
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↗
Neurological signs in congenital iodine-deficiency disorder (endemic cretinism).
Neurological examinations were made of 67 children and adults with congenital iodine-deficiency disorder (endemic cretinism) in four rural villages in highland Ecuador. There was a distinct and readily identifiable pattern of neurological deficits. These included, to varying degrees: deaf-mutism or lesser degrees of bilateral hearing-loss or dysarthria; spasticity, particularly involving the proximal lower extremities; mental deficiency of a characteristic type; and rigidity and bradykinesia. Not all of these elements were found in all cases. Less common features were strabismus, kyphoscoliosis and frontal-lobe signs. There were exceptional cases with hypotonia. In contrast, cerebellar function was largely spared, as were functions of emotion and attention, vegetative and autonomic functions, social interaction, and probably memory, except in the most severely involved.
Adolescent↗
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↗
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↗
Aspects of the analysis of an adult son of deaf-mute parents.
This case demonstrates unique features connected with the parental deafness: the patient's anger toward women, his splitting of objects into all-good and all-bad, ease of regression, yearning for the symbiotic mother particularly as it was related to space as a transitional phenomenon into which he brooked no intrusion, his unique interests and creativity, his method of teaching, the shaping of the Oedipus complex by preoedipal trauma, and his feeling of entitlement with need to be treated as an exception. I have attempted to demonstrate the relation of the preverbal and preoedipal traumata, stemming from the deaf-mutism of the parents of a hearing child, to the patient's pathology, the shaping of his oedipal constellation, and character traits. I have described the compensatory ego functions that resulted in the development of creative, professional ability. Also, I have tried to demonstrate the complicated multiple overdetermination of his symptoms and aspects of his character formation.
Adult↗
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↗
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↗
[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↗
[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↗
["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↗
On goiters and the stupidity which in some countries accompanies them. Endeavours of Vincenzo Malacarne, from Saluzzo.
Two hundred years ago, V. Malacarne, pathologist and surgeon, published a booklet entitled "Su i gozzi e sulla stupidità che in alcuni paesi gli accompagna". Malacarne was born at Saluzzo, a town at the foot of the Cottian Alps, in Western Piedmont. Goiter and endemic cretinism were prevalent at the time (1789) in the countryside. In 1940-45 goiter epidemics spread through these still endemic regions. On the basis of his own observations on autoptic material, he suggested that the main cause of cretinism was brain damage due to impeding of the blood circulation by the neck swelling, and invited the pathologists of the Po and Aosta valleys to send him the head and the neck of these goitrous idiots for his researches. Today, too, we believe the thyroid and the brain to contain crucial factors of cretinism and assume that iodine deficiency is the main cause of the disease. Yet we do not know either the factor which damages and prevents in the myxoedematous cretin postnatal thyroid growth, or the pathogenesis of deaf-mutism, spastic paraplegia and severe mental deficiency of the neurological, non-hypothyroid cretin. While these questions remain unanswered, ample evidence has been gathered during the last two centuries regarding the practical importance of iodine prophylaxis to prevent these scourges, today referred to as "iodine deficiency disorders".
Animals↗
[A case of Pendred's syndrome].
A very rate case of a combination of congenital deaf-mutism and sporadic goiter due to peroxidase insufficiency is presented. This condition is known as Pendred's syndrome. The special features of the case requiring surgical treatment in contrast to the generally accepted conservative attitude are pointed out.
Adult↗
[Leprechaunism].
A course of leprechaunism is described in a 6-month-old girl who died of cachexia in the presence of generalized cytomegalia and myocardial metabolic derangement caused by cardiac arterial calcinosis. Proband sib aged 7 suffered from deaf-mutism and imbecility. There were multiple deformities of the face and body, skin hyperkeratosis with papillomatosis and melanoderma, hirsutism, pseudohermaphroditism, breast hyperplasia, normal serum glucose. Ovarian polycystosis and nephromegaly were detected at autopsy. Histologically, there appeared nesidioblastosis, Leydig's cells focal hyperplasia in the ovaries, cystic renal dysplasia calcinosis of cardiac arteries, those of mesentery of the small intestine, spleen, pancreas and thyroid gland. The final diagnosis was established on the basis of the whole complex of clinical and morphological signs.
Abnormalities, Multiple↗