[Goiter: a rare cause of childhood dyspnea]

Area of Science:

• Pediatric Endocrinology
• Respiratory Medicine
• Radiology

Background:

• Congenital hypothyroidism, often due to thyroid enzyme deficiency, requires lifelong L-thyroxine treatment.
• Intrathoracic goiters can develop as a complication of untreated or undertreated congenital hypothyroidism.
• Tracheal compression is a potential, life-threatening complication of large goiters.

Observation:

• A pediatric patient with congenital hypothyroidism presented with severe inspiratory and expiratory dyspnea and stridor.
• Physical examination revealed a large neck goiter causing visible deformity.
• The patient admitted to non-adherence with prescribed L-thyroxine therapy.

Findings:

• Radiography and CT scans confirmed significant tracheal compression (60% caliber reduction) by the intrathoracic goiter.
• This case represents a rare instance of symptomatic tracheal compression secondary to congenital hypothyroidism-related goiter.
• Dyspnea, even without overt respiratory distress signs, can indicate significant airway compromise from goiter.

Implications:

• Physicians should consider evaluating for goiter in pediatric patients presenting with unexplained dyspnea, especially those with known thyroid conditions.
• Ensuring patient adherence to L-thyroxine treatment is crucial for preventing severe complications like tracheal compression.
• Early diagnosis and management of goiter-related airway compression are vital for favorable patient outcomes.