Cases Of Cretinism Research Articles

Emergency Surgery in a Child with Cretinism with Anticipated Difficult Airway Under Low-Dose Subarachnoid Block

A child with cretinism poses multiple anaesthetic challenges due to the associated mental and physical disability, deranged metabolic and physiologic functions, difficult airway and propensity to perioperative cardiorespiratory complications. Spinal anaesthesia in children is associated with remarkable cardiorespiratory stability and provides complete surgical anaesthesia. Here, we report a case that describes the first successful anaesthetic management of a child who was an unevaluated case of cretinism under subarachnoid block.

The Importance of Adequate Iodine during Pregnancy and Infancy.

Iodine requirements are increased ≥50% during pregnancy. Iodine deficiency during pregnancy can cause maternal and fetal hypothyroidism and impair neurological development of the fetus. The consequences depend upon the timing and severity of the hypothyroidism; the most severe manifestation is cretinism. In iodine-deficient areas, controlled studies have demonstrated that iodine supplementation before or during early pregnancy eliminates new cases of cretinism, increases birth weight, reduces rates of perinatal and infant mortality and generally increases developmental scores in young children by 10-20%. Mild-to-moderate maternal iodine deficiency can cause thyroid dysfunction, but whether it impairs cognitive and/or neurological function in the offspring remains uncertain. In nearly all regions affected by iodine deficiency, salt iodization is the most cost-effective way of delivering iodine and improving maternal and infant health.

Male Hypothyroidism-Clinical Relevance Including Role in Reproduction

Purpose: Overt Hypothyroidism is defined as arise of S.TSH>10mIU/L. Since its incidence is more common in females one generally tends to ignore this diagnosis in males and usually the diagnosis is made in an emergency situation when the patient presents either with coma or with a severe form of Hashimoto’s thyroiditis (HT) like IgG4 related thyroiditis. Methods: A systemic literature search was performed using PubMed for all English articles till Sept 2014 regarding male hypothyroidism using MeSH terms like congenital hypothyroidism, male hypothyroidism and reproduction; subclinical hypothyroidism; Hoffmann’s syndrome; myxedemic coma. Results: To eradicate congenital hypothyroidism all over the world many countries have incorporated in their neonatal screening programme (NNSP), yet occasional cases of cretinism still get diagnosed .Important causes being genes encoding Transcription factor TTX1, TTX2 presenting as Bamforth syndrome, Thyroglobulin gene, Thyroid peroxidase (TPO), TSHR gene abnormalities, Pendreds syndrome coexisting with thyroid developmental abnormalities etc. Context Ig superfamily1deficiency (IGSF1), Fryns Anophthalmia Plus syndrome (APS), TSHβ gene deletion, frame shift mutation in first exon of Fibroblast growth factor8 (FGF8) can present as Central hypothyroidism. The first presentation maybe a neurological emergency like myxedemic coma either secondary to neurofibromatosis, lithium toxicity which responds to L-thyroxin or occasionally may not, responding only to steroids. Some patients may present as different forms of Hoffmann’s syndrome or stiff leg syndromes. Subclinical hypothyroidis, (SH) and its aetiology along with TSH R mutations R109 Qreported as causation in 2 brothers and importance of treatment is highlighted. Importance of treatment of SH in children and adults is discussed. Mechanism of reversible kidney dysfunction in hypothyroidism is highlighted along with discussing its relationship with treatment. Changes in serum testosterone and gonadotropins are discussed in a patient of male hypothyroidism and the way it may affect reproduction. Conclusion: Hypothyroidism may be the primary cause of a male presenting with Hypogonadotropic hypogonadism (HH) and should be suspected in a man presenting with delayed puberty. Untreated hypothyroidism should be suspected as the cause of presentation of myopathies like Hoffmann Syndrome or other myopathies or myxedema coma. SH may warrant treatment in young males with known adverse affects on cardiovascular system although its affect on cognitive function has not been found especially in elderly.

The Effects of Iodine Deficiency in Pregnancy and Infancy

Iodine requirements are increased ≥ 50% during pregnancy. Iodine deficiency during pregnancy can cause maternal and fetal hypothyroidism and impair neurological development of the fetus. The consequences depend upon the timing and severity of the hypothyroidism; the most severe manifestation is cretinism. In moderate-to-severely iodine-deficient areas, controlled studies have demonstrated that iodine supplementation before or during early pregnancy eliminates new cases of cretinism, increases birthweight, reduces rates of perinatal and infant mortality and generally increases developmental scores in young children by 10-20%. Mild maternal iodine deficiency can cause thyroid dysfunction but whether it impairs cognitive and/or neurologic function in the offspring remains uncertain. Two meta-analyses have estimated that iodine-deficient populations experience a mean reduction in IQ of 12-13.5 points. In nearly all regions affected by iodine deficiency, salt iodisation is the most cost-effective way of delivering iodine and improving maternal and infant health.

Iodine deficiency disorders in high-risk areas of Hainan province from 2007 to 2009: an analysis of survey results

Objective To know the prevalence of iodine deficiency disorders(IDD) and the implementation of control measures against the disorders in high-risk areas of Hainan province. Methods Typical sampling principle was used. Eight townships with lower coverage rate of iodized salt were chosen in IDD high-risk counties of Hainan. New cretinism cases were screened among children aged 10 years and under. Intelligence quotient (IQ)value, urinary iodine (UI) concentration and thyroid gland size (by palpation and B ultrasonic) were investigated in children aged 8 to 10 years and questionnaire was also carried out among students from grade 5 in elementary school. Edible salt and urine of women of childbearing age were collected to detect iodine levels, respectively,questionnaire was also carried out among the women of childbearing age. The UI was determined by As3-Ce4+ catalytic spectrophotometer, the salt iodine level was determined using self-quantitative kit. IQ values were measured by the Combined Raven Test in China (CRT-C2). Results Seventy-two townships were investigated in three consecutive years, 7937 children aged 8 to 10 years, 1797 women of childbearing age and 4128 students of grade 5 were included in the survey. One child was diagnosed as suspected new cretinism case. The coverage rate of iodized salt was increased from 44.6%(629/1411) in 2007 to 92.1%(1688/1832) in 2009. The goiter rate was dropped from 5.9% (269/4548), 6.0% (274/4548) in 2007 to 1.6% (24/1461), 0.1% (2/1461) in 2009 bypalpation, and by B-ultrasound, respectively, in children aged 8 to 10 years. The median urinary iodine(MUI) was found to be increased from 97.4 μg/L in 2007 to 165.0 μg/L in 2009, and the percentage of UI less than 50.0 μg/L, and 100.0 μg/L were dropped from 21.4%(973/4548), 51.2%(2329/4548) in 2007 to 7.5 %(110/1461), 23.4%(342/1461) in 2009, respectively. The MUI of women of childbearing age was found to be elevated from 73.7 μg/L in 2007 to 126.1 μg/L in 2009, and the value was also increased from 55.7 μg/L to 121.5 μg/L in pregnant women, but these values were still lower than 150.0 μg/L The pass rate of the questionnaire of IDD controlling among the students of grade 5 and the women of childbearing age was raised from 29.8% (446/1495) ,24.1% (179/742) in 2007 to 65.8%(732/1112), 72.1%(264/366) in 2009, respectively. The mean IQ of children was 90.4±16.0, and the percentage of IQ value less than 69 was 12.6% (1000/7937). Conclusions The diseased state of IDD has improved in the high-risk counties of disorders in Hainan province, but the pregnant women are still iodine deficient. Iodine supplimentation should be promoted among pregnant women. Key words: Iodine; Deficiency disorders; Goiter, Endemic; Data collection

Analysis of field survey results for iodine deficiency disorders in high-risk areas of China

Objective To investigate the occurrence of new cretinism cases and the prevalence of endemic goiter, and the reason of lower coverage rate of iodized salt in the iodine deficiency disorders(IDD) high-risk areas of China, so as to put forward target prevention measures for these areas. Methods A hundred and one counties from 11 provinces(autonomous regions, municipality), such as Tibet, Qinghai, Xinjiang, Gansu, Ningxia, Sichuan, Hainan, Chongqing, Yunnan, Guangxi, Inner Mongolia, were chosen into the survey by simple random sampling. In the counties of high risk, typical sampling principle was used. In the selected townships, searching for new cretinism cases were carried out in the children under 10 years old, the thyroid volume of children aged 8-10 years old were determined by B-ultrasonography methods and their urinary iodine (UI) were determined by As3-Ce catalytic spectrophotometry, the intelligence quotient(IQ) values of children aged 8-10 years old were measured by the combined Raven Test in China. In the household survey, the housewives were asked to fill in the questionnaire, the iodized salt coverage rates and the UI levels of child-bearing age women were investigated, the salt iodine content was determined using self-quantitative kit. Epi Info software was used to analyze the determination results. Results In the 101 high-risk counties, 249 were diagnosed as new cretinism cases from 4122 suspected cases searched. The goiter rate of children aged 8-10 years old by B-ultrasound was 8.28% (4434/53 541), 44 counties had goiter rates in the range of 5%-20%, 5 counties had goiter rates in the range of 20%-30%, and 3 counties had goiter rates of 30%. The mean IQ of children was 85.44, and the percentage of IQ value less than 70 was 16.52%(8713/52 745). The median urinary iodine(MUI) of children was 154.69 μg/L, the percentage of UI less than 50 μg/L was 17.26% (9069/52 558). Twenty-five counties had a MUI of children less than 100 μg/L. The MUI of housewives was 107.14 μg/L, the percentage of UI less than 50 μg/L was 27.50% (3722/13 534). MUI of housewives in 46 counties were less than 100.0 μg/L. The coverage rate of iodized salt at household level was 77.85%(13 150/16 891). The coverage rate of iodized salt was 52.80%(1585/3002), 44.72% (631/1411) and 72.82% (1850/2506) in Tibet, Hainan and Qinghai, respectively. More than 10% residents of Tibet, Sichuan, Hainan, Gansu and Qinghai complained that iodized salt was not convenient to buy. There were 71.39%(7652/10 719) of observed people ate crude salt. The average price of crude salt price(0.30-1.20 Yuan/kg) was lower than iodized salt(1.20-3.00 Yuan/kg). Conclusions In these IDD high-risk areas, the risk of endemic goiter and cretinism prevalence is threatening. The IDD monitoring should be carried out successively in these high-risk areas. The prevention measures, increasing iodized salt coverage rate and establishing the sustainable mechanism for eliminating IDD should be strengthened. Emergent iodine fortification measure for high risk region people should be implemented as soon as possible, a long term effective mechanism of eliminating IDD should be established. Key words: Iodine; Deficiency diseases; Goiter, Endemic; Data collection

The Role of the Intrauterine and Perinatal Environment in Cerebral Palsy

Author Disclosure Drs Paneth, Korzeniewski, and Hong did not disclose any relationships relevant to this article. After completing this article, readers should be able to: 1. Discuss the prevalence of cerebral palsy (CP) in school-aged children. 2. Describe the role of neuroimaging in CP. 3. Describe the impact of ventilatory practices in low-birthweight infants on the risk of CP. 4. Delineate the role of infection and fetal inflammation in pregnancy in the development of CP. The special importance of CP to clinicians whose practices encompass pregnancy and the perinatal or neonatal period is that no other neurodevelopmental disorder bears as close a causal relationship to the hazards of intrauterine and perinatal life. Although the strength of that relationship has been exaggerated at times, especially in relation to obstetric trauma and birth asphyxia, there can be no serious doubt that adverse events in pregnancy and the perinatal period do occasionally damage the fetal or neonatal brain. A distinctive feature of brain damage produced between early gestation and infancy is destruction of cerebral white matter or extrapyramidal tracts, thereby producing a clinical syndrome in which disturbance of motor control is a prominent and probably a necessary feature. Depending on the nature and extent of the insult, the motor disorder may be predominantly spastic, dyskinetic, or ataxic and may involve all four limbs (quadriplegia), one side (hemiplegia), or be most prominent in the legs (diplegia). CP severe enough to be recognized as a disability is found in about 1 in 500 school-age children in most developed countries, with little variation between countries or over the past 30 years. (1) Because CP often is accompanied by other neurodevelopmental disabilities, particularly seizure disorders, varying degrees of mental retardation, blindness, or deafness, affected children constitute the single largest group of children in the population who have major disabilities. (2) More …

Complete elimination of iodine deficiency-induced diseases in the Republic of Serbia through overall salt iodination

The territory of Serbia has been long known to be an iodine de­ficiency area. The surveys conducted in the past 50 years have shown that iodine deficiency disorders ranged from small goiters to endemic cretinism. The iodine deficiency control program has been implemented in Serbia since 1951, in so doing, the salt con­centration of iodine (as potassium iodide) has been gradually in­creased and at present it is 20 mg/kg. Just in the mid- 1960s, io­dine prophylaxis led to cessation of new cases of cretinism and large goiters.This survey was undertaken to determine the iodine provision in Serbia. The survey was conducted in accordance with the WHO, UNICEF, and ICCIDD guidelines and it covered 4598 school­children aged 7 to 15 years from the urban and rural areas of 44 municipalities of Central Serbia and Vojvodina. Among all the examinees, the detection rate of the enlarged thyroid was 2.35% (as evidenced by ultrasound study) and the median urinary io­dine concentration was 158 μg/l. The findings suggest that iodine deficiency has been completely eliminated in Serbia due to the ef­fective program of the overall dietary salt iodination.

Historical events associated with fallout from Bravo Shot--Operation Castle and 25 Y of medical findings.

The events prior to Bravo Shot-Operation Castle that led to a decision not to evacuate the Marshallese prior to testing the thermonuclear bombs are presented as are the actions taken after the fallout incident in evacuating the exposed Marshallese and the military personnel. The initial medical effects (findings during first 6 wk after exposure) are briefly described and are followed by description of long term effects, namely, induction of one case of fatal acute myeloid leukemia and a large number of thyroid tumors (benign and malignant) in addition to hypothyroidism in adults and children and two cases of cretinism. The hypothyroidism and cretinism responded well to administration of oral thyroxine. During the first 25 y, there was also much unrest and political agitation initiated by exposed and unexposed Marshallese who were very unhappy as a result of relocation and inability to return to their homelands and feeling that all illness and deaths were due to the mysterious radiation, which they understandably did not understand. The difficulties in part were ameliorated by financial aid from the U.S. Congress. In view of one of us (EPC), no one agency or person in the U.S. Government was willing to take the responsibility for care of the Marshallese and its financing. The exposed and nonexposed Marshallese had their lifestyle changed, some of their homelands made uninhabitable for several years and could aptly be called "nuclear nomads," an expression coined by others.

Two Cases of Cretinism due to the Absence of Iodide Concentrating Mechanism

Two Cases of Cretinism due to the Absence of Iodide Concentrating Mechanism

Special Susceptibility of the Host to Chemical Agents: Endocrinologic Considerations

THYROID The thyroid offers a diagnostic advantage over other endocrine glands in that its enlargement can be detected clinically (that is also true of the testis which, however, enjoys somewhat less visibility). It is no doubt because of this visibility of the thyroid that observations on its enlargement in association with environmental events go back for centuries. In addition to endemic iodine deficiency (the classical explanation for endemic goiter and endemic cretinism), there may be additional factors acting as chemical pollutants implicated in thyroid disturbances. The 1972 Kroc Foundation Conference on Endemic Cretinism established that endemic goiter and endemic cretinism are worldwide diseases affecting thousands of persons in such remote geographical areas as the Andes, the Brazilian state of Goiaz, the Himalayas, the mountains of New Guinea, and two separate areas in the Congo.1 The syndrome varies from locale to locale, presumably due to interacting environmental factors. A study which might be taken as a model is that of DeLange and Ermans in Idjwi Island in the Congo.2 They found that the presence of excessive dietary intake of thiocyanate as a chemical pollutant interacted with dietary iodine lack to produce an unusual and severe form of endemic goiter and endemic cretinism. They found no goiter in their most severe cases of cretinism; the fetal thyroid had been totally destroyed in utero with early brain damage. Figure 1 depicts the two forms of cretinism found on Idjwi Island. This is a classic example of how a dietary lack (iodine) may set the stage for special susceptibility of the host to a chemical pollutant (thiocyanate).

One Case of Cretinism with Ectopic Thyroid Gland

One Case of Cretinism with Ectopic Thyroid Gland

NEPHROCALCINOSIS IN CREATINISM.

The possibility of nephrocalcinosis developing in cretins, or following the treatment of cretins with thyroid hormone, is discussed, with a review of cases of cretinism with nephrocalcinosis which have been reported in the literature. A further case of cretinism with nephrocalcinosis is reported.

Studies on a case of cretinism due to thyroidal dysgenesis.

The authors describe a case of myxedema due to dysgenesis of the thyroid gland, with remaining sublingual thyroid tissue showing a significant I131 uptake. No abnormal iodoproteins were identified in the serum by electrophoretic studies. An incomplete response to desiccated thyroid and an excellent response to l-triiodothyronine were observed. A suspected inborn cellular enzyme defect for degradation of thyroxine was not confirmed by radiothyroxine turnover studies. Familial studies neither supported nor refuted a hereditary transmission of this entity.

Serologic and immunohistochemical study of human and experimental thyroiditis.

INTEREST in autoimmunity as a factor in the pathogenesis of disease has been stimulated by observations on thyroiditis. Thyroiditis has been produced experimentally in rabbits, guinea pigs and dogs by injection of rabbit thyroid extract,1 , 2 and circulating antibodies have been demonstrated in patients with Hashimoto's thyroiditis.3 Discovery of circulating antithyroid antibodies in patients with myxedema has suggested an autoimmune mechanism in the pathogenesis of such thyroid deficiency.4 Passive transfer of antithyroid antibodies from the mother to the fetus, with resultant damage to the fetal thyroid gland, has been postulated as an explanation for some cases of cretinism.5 , 6 However, circulating antithyroid . . .

Cretinism and mongolism in the same family

A case of cretinism followed by a case of mongolism in the same family is presented. One previous similar family has been found. The mother of the two children reported here suffers from thyroid deficiency. A case of cretinism followed by a case of mongolism in the same family is presented. One previous similar family has been found. The mother of the two children reported here suffers from thyroid deficiency.

Pregnancy Occurring in Cretinism and in Juvenile and Adult Myxedema

THE IDEA prevails that pregnancy does not occur in women with cretinism or myxedema before thyroid therapy. The reports in the literature, on the other hand, agree that pregnancy can occur but that it is extremely rare. Rolleston (1) was not certain that cretins could become pregnant until after thyroid medication and thought that pregnancy in myxedema without treatment was rare. Goldzieher (2) said that myxedematous women can become pregnant, but that it is exceptional. Herrgott (3) was of the opinion that pregnancy occurred only in the attenuated forms of myxedema. We have been able to find in the literature reports of only 7 cases of adult myxedema and 3 cases of cretinism or juvenile myxedema in which pregnancy occurred before thyroid medication. During the past 12 years we have observed 3 cases of adult myxedema, 2 of juvenile myxedema and 1 of cretinism in which pregnancy occurred after the onset of the disease and before thyroid therapy.

SPORADIC CRETINISM IN ONE OF TWINS

The more important features to be presented here are: There is definite proof that the retarded osseous development in congenital sporadic cretinism has its origin in utero. There is an apparent relationship of this osseous retardation to a disturbance of the thyroid gland in the fetus. Two additional cases of cretinism in one of differently sexed fraternal twins are reported, with roentgen demonstration of the occurrence of osseous retardation in utero in one case. The probable deductions that may be made in the physiology are discussed. A review of the American literature shows the paucity of reports on sporadic cretinism in twins. Two cases were reported by Gordon1in a review of a series of three hundred and forty cases of myxedema in childhood in North America. In his series he cited one case reported by Charles Herrman,2in male twins, 6½ years of

Osseous and muscular changes in thyroidectomized sheep.

In about thirty cretinized sheep and goats it was noted that the abdomen and the digestive tract were distended. Several showed either abdominal hernia or prolapse of the rectum. A case of cretinism in a human subject three years of age observed by one of us also had distension of the abdomen and prolapsed rectum. The skeleton in all of them was smaller, in some instances being less than half the size of the controls.In the femurs of three cretinized sheep and one goat, the marrow of the shaft was red and the epiphyseal cartilages intact and irregular. The bones were fragile. Histologically, there was an increase in hemopoietic marrow with large numbers of megakaryocytes, formative erythroblasts and granular leucocytes. The center of the epiphyseal cartilage showed absence of nuclei, the presence of a homogeneous blue area, while at the periphery there were proliferating cartilage cells. In the control of the same age the epiphyseal cartilages had entirely disappeared.Chemical analysis of one of these, pe...

Cases of Cretinism

Cases of Cretinism