Pierre Robin sequence: Year of the Zebra
Pierre Robin sequence describes a combination of congenital birth defects that occur during fetal development, specifically micrognathia, or underdevelopment of the lower jaw, and glossoptosis, or a backward positioned tongue, leading to airway obstruction.
The cause of Pierre Robin sequence isn’t fully understood but often occurs as an isolated genetic mutation, or it can be part of a syndrome, like Stickler syndrome.
Alright, now infants with Pierre Robin sequence have a high risk of airway obstruction due to the tendency of their tongue to slide backwards into the pharynx.
In severe cases, however, the obstruction can make normal breathing difficult and lead to stridor, a high-pitched whistling sound made by the collapsed airway.Most infants with Pierre Robin sequence also have cleft palate, which is an opening in the roof of the mouth.
This opening can make it difficult for the infant to suction milk from the breast or a bottle, causing poor weight gain, food aspiration, and frequent coughing and gagging.
Cleft palate can also affect speech development later in life, and might contribute to frequent ear infections and even secondary hearing loss.
Now, Pierre Robin sequence may be found on ultrasound prenatally, and if this is the case, these infants are more severely affected so further testing can be done.
After birth, diagnosis is usually made based on history and physical examination. A nasolaryngoscopy, a technique where a small tube is inserted from the nose and into the throat, may be done to help locate the level and severity of airway obstruction.
Further evaluation may involve radiologic imaging of the head and neck and a polysomnography, which records oxygen levels and brain activity during sleep.Treatment of Pierre Robin sequence depends on the degree of airway obstruction.
Mild cases may be treated with prone positioning, which is when the infant sleeps facing downwards. This allows the lower jaw and tongue to fall forward, moving the tongue away from the back of the pharynx.
If positioning alone is not effective, a small nasopharyngeal tube may be inserted to temporarily keep the airway open, though special attention is required to avoid aspiration or obstruction of the tube.
Mild cases can resolve in the first few years of life as the infant’s facial bones grow. Moderate or severe cases, on the other hand, are treated surgically with either tongue-lip adhesion, mandibular distraction, or a tracheostomy.
Tongue-lip adhesion is a temporary measure that involves attaching the underside of the tongue to the lower lip. This brings the tongue forward and prevents it from falling backwards.
Mandibular distraction is a technique used to elongate the jaw, which drags the tongue base forward to relieve airway obstruction.
Finally, a tracheostomy involves creating an opening in the trachea to provide an alternative airway for breathing. Alright, as a quick recap, Pierre Robin sequence is the association of micrognathia, glossoptosis, and airway obstruction.
The most common manifestations include breathing and feeding difficulties. Treatment is aimed at keeping the airway open and may include positioning, insertion of a nasopharyngeal tube,
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