PEDBASE.org - The Pediatric Database - Detailed information of LARYNGOTRACHEOESOPHAGEAL CLEFT

LARYNGOTRACHEOESOPHAGEAL CLEFT

DEFINITION:

A congenital disorder of the upper airway characterized by recurrent respiratory embarrassment particularly with feeds.

EPIDEMIOLOGY:

incidence: rare (about 150 cases reported)
age of onset:
- newborn (respiratory distress with feeds)
risk factors:
- sporadic
- M = F

PATHOGENESIS:

1. Background

first described by Richter in 1792
first surgical repair in 1955

2. Etiology

considered to be a developmental abnormality occurring in utero where there is an incomplete separation of the developing esophagus and trachea due to an arrest in the cephalad advancement of the tracheoesophageal septum which prevents the dorsal fusion of the cricoid cartilages (normally completed by 8 weeks of gestation)

3. Types

1. Type 1 (41% of cases)

partial cleft extends down to the lower part of the cricoid cartilage (i.e., limited to the larynx)

2. Type 2 (42% of cases)

partial cleft extends down to a portion of the membranous trachea

3. Type 3 (16% of cases)

complete cleft extending down to the carina

4. Type 4 (1% of cases)

complete cleft extending past the carina into one or both bronchi

CLINICAL FEATURES:

1. Respiratory Manifestations

respiratory distress with feeding
- choking, aspiration, dyspnea, cyanosis
flaccid aryepiglottic folds
- abnormal voice (hoarseness -> aphonia)
- weak or absent cry
- expiratory stridor
increased oral secretions
chronic cough

2. Complications

recurrent aspiration pneumonia
poor feeding +/- failure to thrive

3. Associated Findings

other congenital anomalies
- esophageal - atresia, TEF
- laryngeal
- tracheobronchial
- unilateral pulmonary hypoplasia
microgastria - with Type IV lesions
gastroesophageal reflux (GER)

INVESTIGATIONS:

1. Direct Laryngoscopy/Bronchoscopy

diagnostic but may be difficult to identify (i.e., on 3rd or 4th bronchoscopy when specifically looking for the lesion)
posterior cleft of the larynx and trachea
will always have an abnormal interarytenoid fold

2. Imaging Studies

1. Barium Swallow/Cine Esophagram

confluence of contrast material in the upper esophagus and trachea

MANAGEMENT:

1. Supportive

respiratory support with severe or life-threatening upper airway obstruction, i.e., intubation, tracheostomy

2. Surgical

surgical closure of cleft
- no surgical repair may be necessary for mild clefts
fundoplication and gastrostomy
- for GER

3. Prognosis

normal life span and intelligence

Pediatric Database - LARYNGOTRACHEOESOPHAGEAL CLEFT

Pediatric Organization - Pedbase [at] Gmail.com