Endemic Cretinism

---

This probably reflected pyramidal and extrapyramidal dysfunction, although joint laxity and deformity were important contributing factors. Other frequently encountered clinical features were squint, deafness, and primitive reflexes. Cerebral computerized tomography CT revealed basal ganglia calcification in 15 of 50 subjects.

Endemic cretinism: toward a unifying hypothesis.

The presence of basal ganglia calcification was confined to cretins with severe hypothyroidism. Otherwise, cerebral CT scanning demonstrated only minor abnormalities which did not contribute to the localization of the clinical deficits. We conclude that the same neurological disorder is present in both types of endemic cretinism reflecting a diffuse insult to the developing fetal nervous system.

These clinical findings support the concept of maternal and fetal hypothyroxinaemia, arising from severe iodine deficiency, as the primary pathophysiological event in endemic cretinism. Differences between the two types of cretinism may be explained by continuing postnatal thyroid hormone deficiency in the myxoedematous type, which results in impaired growth, skeletal retardation and sexual immaturity.

The neurology of endemic cretinism. A study of two endemias.

Most users should sign in with their email address. If you originally registered with a username please use that to sign in. To purchase short term access, please sign in to your Oxford Academic account above.

Don't already have an Oxford Academic account? Oxford University Press is a department of the University of Oxford. It furthers the University's objective of excellence in research, scholarship, and education by publishing worldwide.

Sign In or Create an Account. Close mobile search navigation Article navigation. Brain , Volume , Issue 2, 1 April , Pages —, https: Abstract Endemic cretinism is the most severe manifestation of dietary iodine deficiency.

You do not currently have access to this article. You could not be signed in. Iodine is an essential trace element, necessary primarily for the synthesis of thyroid hormones.

Endemic cretinism: toward a unifying hypothesis.

Iodine deficiency is the most common preventable cause of brain damage worldwide. Most iodine, in iodide form, is in the oceans, where the iodide ions oxidize to elemental iodine, which then enters the atmosphere and falls to earth as rain, introducing iodine to soils. Earth deficient in iodine is most common inland and in mountainous areas and areas of frequent flooding, but can also occur in coastal regions owing to past glaciation, and leaching by snow, water and heavy rainfall, which removes iodine from the soil.

Populations living in those areas without outside food sources are most at risk of iodine deficiency diseases. Iodine deficiency results in the impairments in varying degrees of physical and mental development. It also causes gradual enlargement of the thyroid gland, referred to as a goiter. It is being combated in many countries by public health campaigns of iodine administration. Congenital hypothyroidism can be endemic, genetic, or sporadic. If untreated, it results in mild to severe impairment of both physical and mental growth and development.

Poor length growth is apparent as early as the first year of life.

In adults, congenital iodine deficiency syndrome results in mental deterioration, swelling of the skin, loss of water and hair. Ovulation is impeded, and infertility is common. Neurological impairment may be mild, with reduced muscle tone and coordination, or so severe that the person cannot stand or walk. Cognitive impairment may also range from mild to so severe that the person is nonverbal and dependent on others for basic care. Thought and reflexes are slower. Dwarfism may also be caused by malnutrition or other hormonal deficiencies, such as insufficient growth hormone secretion, hypopituitarism , decreased secretion of growth hormone-releasing hormone , deficient growth hormone receptor activity and downstream causes, such as insulin-like growth factor 1 IGF-1 deficiency.

Sporadic and genetic congenital iodine deficiency syndrome results from abnormal development or growth of the foetal thyroid gland.

Navigation menu

This type of congenital iodine deficiency has been almost completely eliminated in developed countries by early diagnosis by newborn screening schemes followed by lifelong treatment with thyroxine T4. Thyroxine must be dosed as tablets only, even to newborns, as the liquid oral suspensions and compounded forms cannot be depended on for reliable dosing. In the case of dosing infants, the T4 tablets are generally crushed and mixed with breast milk, formula milk or water.

If the medication is mixed with formulas containing iron or soya products, larger doses may be required, as these substances may alter the absorption of thyroid hormone from the gut.

cre·tin·ism

A goiter is the most specific clinical marker of either the direct or indirect insufficient intake of iodine in the human body. There is evidence of goiter, and its medical treatment with iodine-rich algae and burnt sponges, in Chinese, Egyptian, and Roman ancient medical texts. In , King Carlo Alberto of Sardinia commissioned the first epidemiological study of congenital iodine deficiency syndrome, in northern Savoy where it was frequent. In past centuries, the well reported social diseases prevalent among the poorer social classes and farmers, caused by dietary and agricultural monocultures, were: However, this disease was less mentioned in medical books because it was erroneously considered to be an aesthetic rather than a clinical disorder.

The earliest Alpine mountain climbers sometimes came upon whole villages affected by it. The proportion of people affected varied markedly throughout southern Europe and even within very small areas it might be common in one valley and not another. The number of severely affected persons was always a minority, and most persons were only affected to the extent of having a goitre and some degree of reduced cognition and growth.

The majority of such cases were still socially functional in their pastoral villages. More mildly affected areas of Europe and North America in the 19th century were referred to as "goitre belts".

• Rethinking creative writing
• John Milton: The Critical Heritage Volume 1 1628-1731: Volume 31 (The Collected Critical Heritage)
• The Reading Workout: A 30-Day Plan for People Who Dont Read (But Want To)
• Billy and the Bearman
• Lelfe de lune 2 - La vengeance des elfes noirs (French Edition)
• Liebe und andere Schmerzen (German Edition)