Concerned Parents Brings 5 Month Old Baby Boy Because He Is Not Growing

A 5 month old infant boy is brought to a rural health clinic because his parents are concerned and say he has grown very little since birth. They say the child is a good baby because he is quiet and sleeps most of the day. The family lives in a rural, mountainous region and has little access to health care. The child's mother received no antenatal care and was delivered at home by a local midwife. Mother says that the baby does not demand feeding much and he has a bowel movement after every few days. He has three elder siblings who are all normal.

Physical Examination reveals:

• A small boy who is relatively lethargic.
• Yellow discoloration of skin 
• Dry skin
• Open fontanelles
• Large protruding tongue
• Small umbilical hernia
• Normal anus and normal appearing genitalia. 
• Decreased muscle tone
• Little or no resistance to examination

The photo of the child is shown below:

What Is the Diagnosis?

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Congenital Hypothyroidism

Case Discussion:

Congenital Hypothroidism also known as cretinism is caused by congenital deficiency of thyroid hormones due to in utero iodine deficiency or a hereditary disorder of thyroid hormone synthesis that leads to growth failure and mental retardation. 

Clinical features: Affected babies have a history of poor feeding, lethargy, poor growth , constipation and significant time spent sleeping. On Physical examination theses infants have large open fontanelles, large tongue, umbilical hernia, jaundice, hypotonicity, dry skin and hypothermia. 

Diagnosis: Diagnosis is suspected by clinical history and examination and confirmed by measuring thyroid blood panel which shows increased TSH and decreased thyroid hormones. 

Treatment: Levothyroxine should be started as soon as possible to avoid permanent complications.