CRETINISM

endocrine disorder seen in infants and young children (who may mature to adult cretins), resulting from thyroid hormone deficiency (hypothyroidism) during fetal or early postnatal life. A closely related condition, juvenile myxedema, develops in previously apparently normal children, usually brought about by enzyme failures in iodine metabolism. It is more appropriately termed familial goitre. Cretins may be afflicted with any of five or more enzyme deficiencies in the synthesis of thyroid hormone or may have a thyroid extremely reduced in size or, in fact, congenitally absent. In the fetus, thyroid deficiency produces profound deviations from normal physical and physiological development. Metabolismparticularly oxidative processesis deficient. There is retarded growth of the brain and overgrowth of the anterior pituitary gland. Symptoms and signs of infantile cretinism that appear at birth or several weeks thereafter include: poor appetite, breathing difficulties, low body temperature, dry and thickened skin, and decreased vigour and activity. During the first three to five months of life, the following signs may be indicative of cretinism: delayed union of skull bones; torpid behaviour; slow nursing; spells of choking and cyanosis (e.g., turning blue of the skin) during feeding; excessive sleepiness; hoarseness; constipation; pallid, cold, gray-mottled or yellow-tinged skin; enlargement of the tongue; umbilical herniation; flabby musculature; a pulse rate of less than 100; or rectal temperatures of 98 F (37 C) or lower. The condition in the young child is characterized by thick, dry, wrinkled, and sallow skin; enlarged tongue; open, drooling mouth with thick lips; broad, flat face and nose; and numerous related conditions. Intelligence level is considerably below average. In juvenile myxedema, the condition can be the same or can vary greatly, depending upon the age at the onset of the disease. In an untreated case, the child becomes a physical and mental dwarf. With thyroid and iodine treatment administered sufficiently early, the juvenile myxedema patient may show marked recovery.