Prolonged ileus in an infant presenting with primary congenital hypothyroidism

Area of Science:

• Pediatrics
• Endocrinology
• Neonatal Medicine

Background:

• Congenital hypothyroidism (CH) is a common neonatal endocrine disorder.
• Universal newborn screening (NBS) has significantly reduced cretinism.
• CH can present with diverse clinical manifestations beyond typical developmental delays.

Purpose of the Study:

• To describe a case of congenital hypothyroidism presenting with severe gastrointestinal complications.
• To highlight the acute gastrointestinal consequences of CH despite early treatment.
• To inform practitioners about less common presentations of CH.

Main Methods:

• Case report of an infant referred for CH confirmation post-NBS.
• Clinical observation of hypoglycemia, lethargy, poor feeding, and abdominal distension.
• Monitoring of thyroid function tests and response to hormone replacement therapy.
• Diagnostic workup for gastrointestinal issues, including ileus and bowel obstruction.

Main Results:

• The infant presented with hypoglycemia, lethargy, and abdominal distension.
• Despite normalization of thyroid function tests with hormone replacement, the infant developed recalcitrant ileus and secondary bowel obstruction.
• These gastrointestinal complications prolonged hospitalization and required further diagnostic evaluation.

Conclusions:

• Acute gastrointestinal complications, such as ileus, can occur in infants with CH even with effective thyroid hormone replacement.
• Practitioners may be less familiar with these presentations due to the success of NBS.
• Early recognition and management of CH are crucial, but awareness of its potential acute complications is also vital.