Laryngeal Cleft: Symptoms, Causes, Treatment

What are the symptoms of laryngeal cleft?

Laryngeal cleft is a rare congenital condition characterized by a defect in the larynx (voice box), which can cause a variety of symptoms. The symptoms of laryngeal cleft can vary in severity and may include:

1. Hoarseness: A hoarse or raspy voice due to abnormal vocal cord function.
2. Breathlessness: Difficulty breathing due to airway obstruction caused by the cleft.
3. Recurrent pneumonia: Recurring episodes of pneumonia due to aspiration of food, liquids, or secretions into the lungs.
4. Coughing: Frequent and persistent coughing due to chronic aspiration.
5. Wheezing: Wheezing sounds while breathing due to narrowing of the airways.
6. Stridor: A high-pitched, stridorous (harsh) sound while breathing due to partial obstruction of the airway.
7. Dyspnea: Difficulty breathing or feeling short of breath.
8. Apnea: Episodes of apnea (stoppage of breathing) during sleep.
9. Feeding difficulties: Difficulty feeding or swallowing due to the cleft, leading to malnutrition and dehydration.
10. Respiratory distress: Severe respiratory distress, requiring assisted ventilation or oxygen therapy.

In some cases, laryngeal cleft may also be associated with other symptoms such as:

• Coughing up food or secretions
• Gagging or choking
• Regurgitation of food
• Sore throat
• Swallowing difficulties
• Choking on secretions

If you suspect that your child has laryngeal cleft, it’s essential to consult with a healthcare provider for a proper evaluation and treatment plan.

What are the causes of laryngeal cleft?

A laryngeal cleft, also known as laryngotracheoesophageal cleft, is a rare congenital anomaly where there is an abnormal opening or gap in the tissues of the larynx (voice box) and sometimes extending into the trachea (windpipe) and esophagus (food pipe). The exact cause of laryngeal clefts is not always clear, but several factors may contribute to their development:

1. Developmental Abnormalities: During fetal development, the structures of the respiratory and digestive systems form separately but in close proximity. A failure in the normal fusion or separation of these structures during embryonic development can result in the formation of a laryngeal cleft.
2. Genetic Factors: In some cases, laryngeal clefts may be associated with genetic syndromes or chromosomal abnormalities that affect embryonic development. Examples include CHARGE syndrome and Pallister-Hall syndrome, among others.
3. Environmental Factors: Exposure to certain environmental toxins or teratogens during pregnancy may potentially contribute to developmental abnormalities, although specific causative agents for laryngeal clefts have not been clearly identified.
4. Multifactorial Causes: It is often considered that laryngeal clefts result from a combination of genetic predisposition and environmental factors, rather than a single specific cause.

Laryngeal clefts are typically diagnosed early in infancy or childhood due to respiratory difficulties, feeding problems, and recurrent respiratory infections. The severity of the cleft can vary, affecting the management and treatment approach. Surgical repair is often required to close the cleft and restore normal function of the larynx and upper airway. Early diagnosis and intervention are crucial for improving outcomes and preventing complications associated with laryngeal clefts.

How is the diagnosis of laryngeal cleft made?

The diagnosis of laryngeal cleft is typically made through a combination of clinical evaluation, imaging studies, and endoscopy. Here are the steps involved in making a diagnosis:

1. Clinical evaluation: A healthcare provider will perform a thorough physical examination to assess the patient’s overall health, including the head, neck, and throat.
2. Imaging studies: Imaging studies such as X-rays, computed tomography (CT) scans, or magnetic resonance imaging (MRI) scans may be ordered to visualize the larynx and surrounding structures.
3. Endoscopy: A flexible or rigid endoscope is inserted through the mouth or nose to visualize the larynx and upper airway. This allows the healthcare provider to assess the size and location of the cleft.
4. Direct laryngoscopy: A direct laryngoscopy may be performed under general anesthesia to allow for a more detailed examination of the larynx and vocal cords.
5. Bronchoscopy: A bronchoscopy may be performed to evaluate the trachea and bronchi for any signs of abnormal anatomy or obstruction.
6. Laryngeal stroboscopy: A laryngeal stroboscopy uses a special device to evaluate the vibration of the vocal cords and assess for any abnormalities.
7. Flexible bronchoscopy: A flexible bronchoscope is inserted through the nose or mouth to examine the upper airway and assess for any signs of obstruction or abnormal anatomy.

The diagnosis of laryngeal cleft is typically made based on a combination of these tests, along with a thorough medical history and physical examination.

In some cases, additional tests may be performed to confirm the diagnosis, such as:

• Laryngeal manometry: measures the pressure and flow of air through the upper airway
• Nasendoscopy: uses a flexible endoscope to evaluate the nasal cavity and nasopharynx
• Multidetector CT scan: provides detailed images of the head and neck

It’s essential to consult with a healthcare provider with expertise in otolaryngology (ENT) or pulmonology for a proper evaluation and diagnosis of laryngeal cleft.

What is the treatment for laryngeal cleft?

The treatment for laryngeal cleft depends on the severity of the defect and the individual patient’s symptoms. The main goals of treatment are to improve breathing, speaking, and swallowing functions, as well as to prevent complications such as recurrent pneumonia and respiratory distress.

Surgical treatment:

1. Laryngotracheoplasty: A surgical procedure to repair the cleft by closing the gap between the larynx and trachea.
2. Laryngeal augmentation: A procedure to add tissue or material to the larynx to improve its shape and function.
3. Tracheal reconstruction: A surgical procedure to repair or replace the trachea if it is severely damaged or obstructed.

Non-surgical treatment:

1. Speech therapy: To help improve speaking and communication skills.
2. Swallowing therapy: To help improve swallowing function and reduce the risk of aspiration.
3. Respiratory therapy: To help improve breathing and reduce the risk of respiratory distress.
4. Oxygen therapy: To provide supplemental oxygen to patients with chronic respiratory insufficiency.

Palliative care:

1. Pain management: To manage pain and discomfort associated with the condition.
2. Symptom control: To manage symptoms such as coughing, wheezing, and shortness of breath.
3. Nutritional support: To ensure adequate nutrition and hydration.

It’s essential to consult with a multidisciplinary team of healthcare professionals, including otolaryngologists, pulmonologists, speech therapists, and other specialists, to develop a comprehensive treatment plan tailored to the individual patient’s needs.

In some cases, laryngeal cleft may be diagnosed prenatally, allowing for early intervention and management to improve outcomes for the child.