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Laryngotracheoesophageal Cleft

Laryngotracheoesophageal Cleft



Overview

A Laryngotracheoesophageal cleft (LTEC), commonly referred to as a laryngeal cleft, is an abnormal connection between the airway/windpipe (larynx and trachea) and the esophagus. A LTEC is a congenital disorder, meaning it is present at the time of birth. Children are usually diagnosed in the first two years of life. Symptoms typically appear within the first few months of life and are primarily related to difficulty eating and breathing. Symptoms may vary depending on the severity of the cleft. Children may have problems feeding and swallowing, difficulty gaining weight appropriately, coughing, hoarseness, acid reflux, noisy breathing, lung infections or trouble getting enough oxygen (respiratory distress). Treatment generally consists of surgery to repair and close the connection between the airway and esophagus. Children with milder forms of LTEC may not require surgery.

In the neck, there are two main passageways—the airway in front which allows air to travel to the lungs and the esophagus behind it which moves food to the stomach. The voice box (larynx) and a large flap called the epiglottis sit above the trachea and help prevent food or liquid from entering the lungs.

During the initial stages of human development (in the womb), there is only one passageway, which eventually separates into two tubes: the airway and esophagus. Normally, the trachea and esophagus separate completely so there is no connection between them. If this division is not successfully completed, a connection remains between the airway and the esophagus. This connection is called a laryngeal cleft or laryngotracheoesophageal cleft depending on how deep the cleft extends. Due to this abnormal connection, food and liquids can enter the airway from the esophagus and air can enter the esophagus from the airway. This causes problems with breathing and swallowing.

Symptoms

When there is a connection between an infant’s airway and esophagus, food and liquid can pass into the lungs. This can lead to a variety of problems, including chronic cough, frequent lung infections, a high-pitched gasping sound usually heard during breathing in (stridor), a high-pitched musical sound usually heard when breathing out (wheezing), skin turning blue (cyanosis), pauses in breathing (apnea) and respiratory distress. Affected children often have feeding difficulties such as gagging, choking or coughing during eating, which can lead to failure to gain weight. Signs and symptoms of LTEC often begin in the first few days of life if the cleft is severe enough to affect feeding and breathing. Milder LTEC may not be diagnosed until years later.

The classification of laryngeal and laryngotracheoesophageal clefts differs depending on the size and type of connection between the airway and esophagus. The mildest form (type I) is a deep groove extending up until the vocal cords. This is the most common type. A type II cleft extends into the cricoid cartilage below the vocal cords. Type III clefts extend completely through the cricoid cartilage, while type IV clefts continue deeper into the windpipe (trachea) or even into the lungs. Type IV clefts are the most severe form and occur less frequently.

Causes

Laryngotracheoesophageal clefts are congenital, meaning they are present at birth. The cause is unknown.

Affected populations

Laryngeal clefts are estimated to occur in 1 out of every 10,000-20,000 births. Laryngotracheoesophageal clefts are a subtype of laryngeal cleft, and the incidence of LTECs is even lower, estimated around 1/600,000 births.

LTECs are usually diagnosed in children under two years of age. More severe types of LTEC, such as type IV clefts, are typically diagnosed in the first few months of life because of the more severe symptoms. LTECS occur more frequently in males compared to females, with a ratio of 5:3.

Disorders with Similar Symptoms

LTECs can occur alone or in association with other health problems as a part of a syndrome. Some of the syndromes associated with LTEC include Opitz syndrome, DiGeorge syndrome, VACTERL association, CHARGE syndrome and Pallister-Hall syndrome. More information is available about these conditions in the Rare Disease Database.

Diagnosis

The diagnosis of LTEC may be suspected based on clinical signs and symptoms. A doctor may perform a modified barium swallow study to further investigate symptoms. A swallow study involves having the infant or child drink a liquid that has been dyed with a white powder called barium. X-rays are taken of the child while swallowing to visualize any leakage of dye from the esophagus into the airway, which would indicate possible laryngeal cleft. Barium is not harmful to the child’s health. A swallow study can be supportive in diagnosing LTEC, but the preferred method of diagnosis is with a rigid laryngoscopy and bronchoscopy. This procedure involves using a camera with a light to look inside the larynx and trachea. This is typically performed under general anesthesia in the operating room. During this procedure, doctors measure the size of the connection between the airway and esophagus to understand the type and severity of LTEC.

Clinical Testing and Workup

After diagnosis of LTEC, patients are typically cared for by a multidisciplinary team. Evaluation may include pulmonology (lung doctor), gastroenterology (stomach doctor), otolaryngology (ear, nose, throat doctor), pediatrics, speech pathology, occupational therapy, genetics and social work. This assessment can help the family understand the disease course and management. If the child was born with other health problems in addition to LTEC, genetic testing may be recommended to determine if there is an underlying genetic syndrome. Patients usually require additional screening tests and repeat bronchoscopy and endoscopy to reevaluate the airway after surgery.

Standard Therapies

The primary treatment for a laryngeal cleft is surgery to close the connection between the airway and esophagus. This surgery can be done either endoscopically by entering through a child’s mouth or an “open approach” by going through their neck. During this procedure, a surgeon will close the cleft with stiches. Endoscopic repair is preferable for mild laryngeal clefts, while open repair is often necessary for more severe LTECs (types III & IV) which is often the case for young infants with small airways. Both procedures are done when the child is asleep under general anesthesia in the operating room. Further management may include tracheostomy and/or gastrostomy tube for breathing and feeding assistance, among other supportive measures.

Type of Doctor Department :Pediatric ENT Surgeon

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