A cleft larynx is a congenital developmental anomaly characterized by incomplete closure of the cartilaginous and soft tissues of the larynx in the midline. This pathology can manifest itself in various forms: from a minimal splitting of the epiglottis to a complete separation of all laryngeal structures. The clinical picture of the disease varies from an asymptomatic course to severe respiratory failure and swallowing disorders. The pathogenesis of the disease is associated with a violation of embryogenesis processes in the period from 3 to 8 weeks of intrauterine development, when the formation of laryngeal structures occurs.
History of the disease and interesting historical facts
The first description of laryngeal cleft was recorded in medical literature in the early 19th century by the French physician Pierre Bretonneau. In 1827, he presented a detailed clinical description of a case in a newborn child. It is interesting to note that the first successful surgical interventions for this pathology were performed only in the mid-20th century, thanks to the development of microsurgical technologies. “Modern methods of diagnosis and treatment of laryngeal cleft significantly reduce the risk of complications and improve the prognosis for patients,” notes a study in the Journal of Pediatric Surgery (2019).
Epidemiology
According to international studies, the incidence of laryngeal clefts is approximately 1 in 10,000-20,000 live births. The disease is more often diagnosed in boys than in girls, with a ratio of 2:1. Statistics show that about 40% cases are combined with other congenital anomalies, most often with cardiovascular and gastrointestinal tract defects.
Genetic predisposition to this disease
Research in recent years has linked laryngeal clefts to mutations in several genes:
- FOXF1 - regulator of respiratory system development
- SOX9 is a key factor in chondrogenesis
- TBX1 is a gene involved in the formation of pharyngeal arches
“Recent genetic studies have confirmed the polygenic nature of the disease,” according to an article in the American Journal of Medical Genetics (2021). The hereditary nature of the pathology is observed in approximately 15% cases.
Risk factors for the development of this disease
The main risk factors include:
- Exposure to teratogenic substances during pregnancy (retinoids, anticonvulsants)
- Maternal diabetes
- Late reproductive age of parents
- Prenatal infections
- Folic acid deficiency in the first trimester of pregnancy
Particular attention is paid to the impact of environmental factors and occupational hazards.
Diagnosis of this disease
The main symptoms include stridor, dysphonia and swallowing disorder. The diagnostic algorithm includes:
- Laryngoscopy
- CT and MRI of the neck
- Ultrasound of the chest organs
- Endoscopic examination of the upper respiratory tract
Differential diagnosis is carried out with laryngomalacia, laryngeal stenosis and tumor processes.
Treatment
The therapeutic tactics depend on the severity of the defect:
- Conservative treatment for mild forms
- Surgical correction for significant defects
- Speech therapy rehabilitation
- Respiratory support
Surgical interventions are usually performed at the age of 6-12 months.
List of drugs used to treat this disease
- Broad-spectrum antibiotics (Amoxicillin-clavulanate)
- Anti-inflammatory drugs (Dexamethasone)
- Bronchodilators (Salbutamol)
- Antitussives (Butamirate)
Disease monitoring
Regular monitoring includes:
- Monthly examination during the first year of life
- Control of external respiratory function
- Monitoring the growth and development of the child
- Voice quality assessment
The prognosis is favorable with timely treatment, but complications in the form of recurrent respiratory infections are possible.
Age-related features of the disease
In newborns, the disease often manifests itself as acute laryngeal stenosis. In early childhood, swallowing and speech disorders predominate. Adolescence is characterized by compensation of most symptoms, but dysphonia may persist.
Questions and Answers
- What are the first signs that should alert parents? The main signs are a hoarse voice, difficulty breathing and difficulty swallowing.
- Is it possible to completely cure a cleft larynx? Modern surgery allows to completely eliminate the defect in most cases.
- How often should I get checked? Monthly examinations are recommended during the first year of life, then every 3-6 months.
Advice from Dr. Oleg Korzhikov
Parents often ask about preventing complications. I recommend following these rules:
- Ensure the correct position of the baby during feeding
- Avoid contact with respiratory infections
- Strictly follow the schedule of preventive examinations
- Do not delay contacting a specialist if new symptoms appear.
“Early diagnosis and a comprehensive approach to treatment allow us to achieve excellent results even with complex forms of the disease,” emphasizes Dr. Korzhikov.
