Ear, Nose, and Throat (ENT) disorders
Ear, Nose, and Throat (ENT) disorders are one of the disease groups within ERN CRANIO that covers a wide range of rare diseases within the ENT specialism.
Congenital anomalies of the neck
Branchial anomalies in children encompass a large spectrum of congenital malformations found along the neck's lateral or medial regions.
Among these anomalies are the first, second, and fourth branchial types, each displaying distinct characteristics.
First branchial cleft anomalies typically manifest as cysts, sinuses, or both situated near the ear or along the jawline.
Second branchial clefts sinuses can extend from the antero-lateral inferior third of the neck up to the homolateral tonsil; second branchial cysts are usually located near the angle of the mandible.
In both 1st and 2nd branchial clefts, an auditory testing (which sometimes may only be the newborn hearing screening) is mandatory at some point during the management.
Fourth branchial pouch anomalies often involve deep neck structures, presenting as fistulas (inside the throat in the pyrifom sinus, a part of the lower pharynx), or cysts located near the thyroid gland. Most of the lesions are located of the left side.
Alongside these branchial anomalies, the thyroglossal duct cyst stands as another frequent condition, arising from incomplete involution of the thyroglossal duct during embryonic development. Such condition often present like a swelling in the midline of the upper part of the neck. Variations in volume and infections are frequent.
Numerous other congenital branchial / facial / cervical malformations exist. Accurate identification and tailored management strategies for these anomalies are crucial to mitigate potential complications, highlighting the significance of precise diagnosis and appropriate interventions for optimal patient care.
Congenital nasal anomalies
Numerous malformations are also possible at this level. The two most frequent are choanal atresia and congenital stenosis of the pyriform aperture.
The choanae are orifices at posterior part of the nasal cavities, allowing air to pass from the nose to the throat. Choanal atresia is an obstruction of one (unilateral) or both (bilateral) choanas by a membrane and/or bone. This rare malformation is present at birth (congenital) and prevents air from flowing properly down the respiratory tract.
Depending on its severity, choanal atresia is characterized by symptoms ranging from chronic nasal obstruction to severe, life-threatening respiratory distress.
Choanal atresia is treated surgically. For bilateral forms, surgery is performed as within a few days of birth. In the case of unilateral choanal atresia, the malformation is generally well tolerated, and surgical treatment is recommended without urgency, usually from 12 months of age and sometimes even much later.
Surgery is performed using nasal endoscopy (through the nostrils) to remove excess tissue and bone blocking the back of the nose. Even if this procedure is very effective, a follow-up is necessary for several months.
The piriform nasal aperture is the pear-shaped bony opening in the middle of the face, at the site of the nose, corresponding to the entrance to the nasal cavities (two air passages dug into the maxillary bones, separated by the nasal septum, which open at the front by the nostrils and at the back by the choanae).
This narrowing of the piriform orifice in its transverse dimensions is the result of excessive growth (hypertrophy) of part of the maxillary bone and its medial displacement.
In the case of moderate stenosis (narrowing), breathing difficulties may occur later in the infant, manifesting as "wheezing" (inspiratory stridor), chronic nasal obstruction ("blocked nose" or nasal congestion), feeding difficulties or even suffocation during feeding (apnea, cyanosis due to the inability to breathe through the mouth and feed simultaneously). This respiratory discomfort diminishes when the child cries, as it is then possible to breathe through the mouth. In the case of severe stenosis, nasal obstruction can occur, leading to increased respiratory effort, which in turn can cause neonatal respiratory distress, potentially life-threatening if not promptly treated.
Most children with such stenosis have few symptoms, and often only require local care such as nasal cavity cleansing with saline. In the event of more serious involvement, particularly if the child has difficulty feeding, the use of serum with added adrenaline and/or local corticosteroids will be suggested.
In the event of insufficient efficacy, surgical treatment to enlarge the piriform orifices may be proposed.
Genetic hearing loss
Deafness is the most frequent form of sensorial deficit. In the vast majority of cases, the deafness is termed nonsyndromic or isolated and the hearing loss is the only clinical anomaly reported. In developed counties, 60-80% of cases of early-onset hearing loss are of genetic origin.
A laryngo-tracheo-esophageal cleft is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus.
Depending on the severity of the malformation, patients may present with stridor, hoarse cry, swallowing difficulties, aspirations, cough, dyspnea and cyanosis through to early respiratory distress. Five types of laryngo-tracheo-esophageal cleft have been described based on the downward extension of the cleft, which typically correlates with the severity of symptoms: Type 0 laryngo-tracheo-esophageal cleft to Type 4 laryngo-tracheo-esophageal cleft (see these terms). LC is often associated with other congenital abnormalities/anomalies (16% to 68%), mainly involving the gastro-intestinal tract, which include laryngomalacia, tracheo-bronchial dyskinesia, tracheo-bronchomalacia (mostly in types 3 and 4), and gastro-esophageal reflux disease (GERD). The syndromes most frequently associated with an LC are Opitz/BBB syndrome, Pallister Hall syndrome, VACTERL/VATER association, and CHARGE syndrome.
The age of diagnosis depends mainly on the severity of the clinical symptoms and therefore on the extent of the LC. Diagnosis is made either based on clinical manifestations or on investigations, such as endoscopy, X-ray, CT scan, performed for other conditions.