Congenital Hypothyroidism In Infants

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Body Temperature Hypothyroidism

Figure 5.2. Left, radiograph of the long bones of the lower extremity in a term infant with congenital hypothyroidism. Note the lack of the ossification centers. The distal femoral ossification center usually appears at 36 weeks gestational age and the proximal tibial ossification center usually appears at 38 weeks gestational age. Right, lateral radiograph of the neck of the same infant showing the presence of a large congenital goiter which caused severe respiratory distress.

Figure 5.2. Left, radiograph of the long bones of the lower extremity in a term infant with congenital hypothyroidism. Note the lack of the ossification centers. The distal femoral ossification center usually appears at 36 weeks gestational age and the proximal tibial ossification center usually appears at 38 weeks gestational age. Right, lateral radiograph of the neck of the same infant showing the presence of a large congenital goiter which caused severe respiratory distress.

Proximal Constipation

Figure 5.3. This 5-week-old infant with congenital hypothyroidism has generalized myxedema, dry skin, hoarse low-pitched cry, low body temperature, and constipation. Note the characteristic facies with enlarged tongue (macroglossia) and the protuberant abdomen ("pot belly") with umbilical hernia.

Figure 5.4. Typical facies of the same infant as in Figure 5.3 with congenital hypothy-roidism. Note the coarse facial features with the macroglossia and the mottling of the skin (cutis marmorata). At birth there are usually no abnormal signs; the characteristic features of hypothyroidism develop at a few weeks to a few months of age. At the present time, neonatal screening has been invaluable in making an early diagnosis. The diagnosis must be considered in infants with persistent jaundice or constipation.

Figure 5.5. The face of another infant with congenital hypothyroidism. Note the coarse facies, coarse hair, puffiness of the eyes, and the macroglossia.

Congenital Hypothyroidism

Figure 5.6. Lateral view of the head and face of the same infant as in Figure 5.5. Note the coarse facies, edema of the eyelids, and the macroglossia.

Congenital Hypothyroidism
Figure 5.7. This infant with a goiter had decreased tone as the result of hypothyroidism.

Figure 5.8. Antero-posterior and lateral radiographs of an infant with congenital hypothyroidism. Note the marked cardiomegaly as the result of congestive heart failure.

Facial Puffiness Hypothyroidism

Figure 5.9. Typical appearance of infant at the age of 9 days with congenital hypothyroidism (coarse facial features, puffiness of the eyelids, macroglossia, and coarse hair). Infant presented at birth with cardiogenic shock. Hospital course was remarkable for seizures and death at age 12 days from a pulmonary hemorrhage. Infant had a low T4 (thyroxine) and increased TSH (thyroid-stimulating hormone). Autopsy findings revealed the presence of inflammation involving the heart, brain, liver, and kidneys. The thyroid gland was normal histologically. Adenovirus was detected with poly-merase chain reaction (PCR) technology.

Figure 5.10. The same infant as in Figure 5.9 had marked cutis marmorata and non-pitting edema (myxedema) of the face, of the dorsum of the hand, and of the external genitalia.

Figure 5.11. Congenital hypothyroidism. Note the classic facial features in association with generalized muscle hypertrophy. These are rare but classic findings in infants with the Kocher-Debré-Sémélaigne syndrome ("wrestler's" syndrome).

Figure 5.12. Posterior view of the same infant as in Figure 5.11 clearly demonstrating the generalized muscular hypertrophy.

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Constipation Prescription

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