Untreated Congenital Hypothyroidism Mimicking Hirschsprung Disease: A Puzzling Case in a One-Year-Old Child

Area of Science:

• Pediatric Endocrinology
• Neonatal Medicine
• Gastroenterology

Background:

• Congenital hypothyroidism (CH) is a critical condition in newborns, posing risks for developmental delays.
• Intestinal dysmotility, including constipation, is a known symptom in infants with CH.
• Hirschsprung disease, a congenital disorder affecting the large intestine, is rarely linked to CH.

Observation:

• A one-year-old child presented with symptoms suggestive of Hirschsprung disease.
• The child was diagnosed with congenital hypothyroidism.
• Clinical presentation mimicked congenital intestinal aganglionosis.

Findings:

• Thyroid hormone deficiency critically impacts bowel motility.
• Levothyroxine sodium treatment effectively managed the intestinal dysmotility.
• The condition successfully mimicked Hirschsprung disease due to CH-induced motility issues.

Implications:

• Early diagnosis and treatment of CH are crucial to prevent severe complications like mental retardation.
• This case underscores the importance of considering CH in infants presenting with intestinal dysmotility mimicking Hirschsprung disease.
• Thyroid hormone replacement therapy can resolve CH-related gastrointestinal symptoms, preventing misdiagnosis and unnecessary invasive procedures.