Bilateral Inferior Head Turbinate Agenesis

Area of Science:

• Otolaryngology
• Genetics
• Medical Imaging

Background:

• Inferior nasal turbinates are vital for conditioning inhaled air.
• Turbinate hypertrophy commonly causes nasal obstruction, but congenital malformations are rare.
• Unilateral agenesis of inferior turbinates has been documented, but bilateral agenesis is exceptionally uncommon.

Observation:

• A 22-year-old woman presented with chronic nasal obstruction, sneezing, and itching.
• She had a history of trisomy 14 mosaicism and mild facial dysmorphic features.
• Clinical examination and nasal endoscopy revealed bilateral inferior head turbinate agenesis (BITHA) with compensatory hypertrophy of other turbinate portions.

Findings:

• This is the first reported case of BITHA.
• The patient's symptoms improved with nasal corticosteroids and antihistamines.
• BITHA was observed in a patient with trisomy 14 mosaicism, suggesting a potential association.

Implications:

• BITHA may be a specific clinical feature of trisomy 14 mosaicism.
• The absence of empty nose syndrome (ENS) in this patient suggests ENS may be iatrogenic, not congenital.
• This case provides valuable insights into the etiology of ENS and congenital nasal anomalies.