Airway Management of Children With Rare Syndromes

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Children with rare congenital syndromes tend to undergo multiple diagnostic procedures or surgeries throughout their lifetime that require sedation or general anesthesia.¹ Due to the various anatomic and craniofacial features present in children with these syndromes, airway management can be challenging.

Further complicating matters, each syndrome presents its own challenges in terms of airway management: intubation, ventilation, the increased risk for desaturation and/or aspiration, or other non-airway complications.² Therefore, careful consideration should be given when deciding which airway devices and anesthetic techniques to use during airway management of children with rare diseases.

The key to managing these types of cases is identifying where the difficulty in airway management lies and how to address it. There are many alternative means to manage difficult airways in these children. Certain airway and anesthetic techniques may be better alternatives than the initial choice of conventional laryngoscopy and bag-mask ventilation.³

The use of specialized airway devices, such as a video laryngoscope or flexible fiber-optic bronchoscope (FFB), with or without a supralaryngeal device (SLD), may offer a safe alternative as an initial choice.⁴ The key is to avoid an urgent or emergent intervention, such as performing a surgical technique quickly during a crisis in a patient with limited oxygen reserves.

The options of oral or nasal intubation with an FFB and the use of different SLDs (eg, an LMA ProSeal [Teleflex]; air-Q [Cookgas], etc) for ventilation and/or as a conduit for asleep FFB intubation offer a more controlled setting.

Alternative nonconventional methods adapted from routine clinical care in children are needed.¹Depending on the age and cognitive function of the patient, another safe option is the use of “non-asleep” techniques for intubation, for which the patient is either awake or intubated after the administration of minimal to moderate sedation and topical anesthesia of the airway. These techniques allow for spontaneous breathing and preserve muscle tone during airway management.

In order to decide which technique to choose, it is important to consider the many factors involved, such as age; cognitive function; anatomic and physiologic differences, depending on the specific syndrome encountered; and potential reactions or inability to use certain medications and/or anesthetic agents in certain syndromes.² Regardless of the airway devices used, the goal beyond visualizing the vocal cords or placing the endotracheal tube (ETT) is to minimize complications and safely perform the tasks easily during airway management.

This review discusses 3 separate and rare syndromes in children, Cornelia de Lange syndrome (CdLS), Pitt-Hopkins syndrome (PTHS), and Freeman-Sheldon syndrome (FSS, also called “whistling face” syndrome), as well as their implications for airway and anesthetic management. The clinical features of these syndromes and their implications for airway management as related to intubation, ventilation, and prevention of oxygenation and aspiration are examined.

Case 1: Cornelia de Lange Syndrome

An infant recently diagnosed with CdLS is admitted for further workup at a tertiary care children’s hospital (Figure 1). She underwent a G-tube placement at 6 weeks of age and was reported to be a difficult intubation by her parents, on the basis of experiences during a past operation. She presented for a workup at 3 months of age that would include laryngoscopy, bronchoscopy, and esophagogastroduodenoscopy. The parents ask whether alternative airway techniques may be considered for the patient beyond conventional laryngoscopy and bag-mask ventilation.

Figure 1. Views of children with Cornelia de Lange syndrome.

Courtesy of and consent obtained from Anne Suttman.

CdLS is a congenital disease affecting approximately 1 in 20,000 births. Clinical symptoms include a depressed nasal bridge, micrognathia, a cleft palate, a small mouth opening, a receding chin, and limited range of motion of the neck. Children affected by this syndrome tend to undergo several procedures in their lifetimes that may require the use of sedation or general anesthesia.

Due to the anatomic abnormalities of the disorder, these children may present with difficult airways. The ability to obtain an adequate seal during bag-mask ventilation may be challenging due to the depressed nasal bridge and receding chin, which may possibly lead to desaturation.

A study of CdLS patients found that approximately 30% of parents and caregivers of pediatric patients reported difficult intubation during past procedures.⁵ Additionally, 43% reported the need for a smaller ETT.⁵ Case reports indicate that a variety of airway devices have been used successfully for intubation, and highlight the need for safe techniques (Table 1).

CdLS may present prenatally during ultrasound assessment or after genetic testing. Once diagnosed early in infancy, these patients may be especially challenging for airway management due to their anatomic and pathophysiologic differences, leading to severe airway and nonairwayoutcomes, such as cardiac arrest. The goal for airway management in these patients is to safely intubate and ventilate using a specialized airway device, such as an FFB or in combination with an SLD, as the initial technique. Use of this approach may avoid desaturations and other non–airway-related complications.

An elegant technique is to induce the patient, place an SLD to oxygenate and ventilate, and then use that as a conduit to intubate with an FFB, with railroading of an ETT. Additionally, an FFB alone may be used to intubate, or after removal of the SLD.^6,7

In this case, after induction, an LMA Classic (Teleflex) was used for oxygenation and ventilation as well as a conduit for intubation using an FFB. This technique was a safe alternative to conventional laryngoscopy, as it was already known that intubation and ventilation were to be challenging from the history provided by the parents (Figure 2).

Figure 2. Family education: how to explain airway management to families with children with rare syndromes.

Case 2: Pitt-Hopkins Syndrome

An 8-year-old boy with PTHS presents for both lower and upper endoscopies (Figure 3). The parent informs you that the last time her child received general anesthesia he became very agitated and aggressive when he awakened. He also was not able to fall asleep for almost 36 hours post-surgery. The parent wants to know whether there is anything that can be done differently to avoid these postoperative complications. What can be done to avoid paradoxical reactions to these medications?

Figure 3. Pitt-Hopkins syndrome.

Features pertaining to airway and anesthetic management: A, frequent seizures; B, broad nose with full tip and high bridge; C, cupid’s bowing of upper lip and full lower lip; and D, widely spaced teeth.

Sketch courtesy of Daniel Botros, BA.

PTHS is a rare genetic syndrome affecting just several hundred patients worldwide. Typical symptoms displayed in children with this syndrome include intellectual disabilities, seizures, hyperventilation, gastrointestinal (GI) issues, and anatomic abnormalities. Intellectual disabilities may make cooperation difficult for the patient and lead to unexpected and severe temperament changes during preoperative assessment.

Additionally, the antiepileptic medications that these children receive may interact with certain medications and anesthetic agents. As for airway management, oxygenation and/or the risk for aspiration are the principal challenges. PTHS children undergo periods of hyperventilation that may lead to low oxygen saturation levels and an increased risk for desaturation during airway management (Table 2). Longer preoxygenation periods before intubation may reduce this risk.

In addition, the high incidence of GI issues may lead to an increased risk for aspiration. However, lower GI problems, such as diarrhea and constipation, tend to outweigh gastroesophageal reflux and upper GI problems.

A recommended technique involving minimal insufflation of the stomach during bag-mask ventilation and the avoidance of positive pressure may be imperative in these patients.^8,9 A case report noted a difficult intubation in a child with PTHS, but this is not a general trend in these patients. Their distinctive wide mouth with full lips does not tend to predispose these children to an increased risk for difficult intubation. The main issue tends to be with the anesthetic agents used, as these children often experience paradoxical, adverse effects from different medications.

To further complicate the choice of anesthetic, each child may have differing reactions depending on the specific mutation that led to PTHS.¹⁰ Not all patients with this rare syndrome present with difficulties in airway management, and it is important to select the best anesthetic agents to tailor their care. Similarly, in certain syndromes, such as FSS, discussed below, certain medications should not be used, and other more specialized techniques are required.

Case 3: Freeman-Sheldon (“Whistling Face”) Syndrome

A 7-year-old boy was scheduled for orthopedic surgery of the lower extremities (Figure 4). Induction was performed with propofol and fentanyl. For maintenance of anesthesia, remifentanil and propofol were used, and a continuous epidural block was performed for postoperative analgesia.

Figure 4. A patient with Freeman-Sheldon (“whistling face”) syndrome.

Case and images courtesy of Jorge Barrios, MD.

For airway management, a laryngeal mask was used as a guide to introduce the FFB. A metal guide was introduced with a flexible tip, and the FFB and laryngeal mask airway were both withdrawn leaving the guide in place. An ETT was railroaded onto the guide and placed into the trachea. The guide was then removed without difficulty.

FSS is another rare congenital syndrome that presents airway management challenges. It is characterized by several anatomic malformations, especially of the face and extremities. Children with this syndrome tend to have a small mouth with pursed lips, resembling the act of whistling, which gives FSS its informal name. In addition, they often present with a short, webbed neck, joint contracture, and clubbed feet. Due to their musculoskeletal malformations, they often require orthopedic and/or plastic surgery under general anesthesia (Table 3).

Due to their limited mouth opening and short neck, patients suffering from FSS may be prone to difficult intubation. Several case reports illustrate the need to use an FFB either orally or nasally for intubation.

Of note, these patients are at increased risk for malignant hyperthermia during general anesthesia. For that reason, succinylcholine and halogenated agents should be avoided during airway management.

A “non-asleep” technique, including sedation and topicalization of the airway, may be a good alternative for these patients, as muscle tone is maintained and muscle relaxants may be avoided (Figure 5). First, the patient should be administered an anticholinergic agent, such as glycopyrrolate or atropine, to decrease secretions or maintain heart rate, respectively. Midazolam and ketamine may be used for sedation. Once properly sedated, the oral cavity should be topicalized using either lidocaine gel or ointment, depending on the patient’s age and weight. The gel can be applied to the lips, tongue, and palate using a gloved finger or pacifier. If biting of the scope is an issue, an oral airway placed at a 90-degree angle may prevent further biting.

Figure 5. “Non-asleep” technique for airway management in children with rare syndromes.

ETT, endotracheal tube; FFB, flexible fiber-optic bronchoscope

The choice of bronchoscope should be made on the basis of the size of the ETT and the opening of the oral cavity. If the ETT is less than an inner diameter of 4.0 mm, an ultrathin FFB should be used; otherwise a pediatric or adult FFB may be used. An epidural catheter may be placed in the instrument channel of the FFB in order to spray the vocal cords and trachea with lidocaine before passing the ETT.

Figure 6. Airway management implications involving intubation, ventilation, oxygenation, and aspiration.

Legend: Concerns: green=minor; yellow=moderate; red=major.

BMV, bag-mask ventilation; CdLS, Cornelia de Lange syndrome; CPAP, continuous positive airway pressure; ETT, endotracheal tube; FSS, Freeman-Sheldon syndrome; GERD, gastroesophageal reflux disease; GI, gastrointestinal; PTHS, Pitt-Hopkins syndrome

Once the lower airway has been topicalized, the ETT may be advanced using a clockwise–counterclockwise rotation method. The advantages of this technique are avoidance of inhalational anesthetics, maintenance of muscle control to prevent airway collapse, and enhanced flexibility for placement of the ETT.

Conclusion

Anatomic features in children with rare syndromes may lead to either difficulty visualizing the vocal cords or placing the ETT, or ventilating. The technique used should be tailored to the specific syndrome and the individuals themselves, as there also tends to be significant variation within the same syndrome.

We presented the overall challenges for CdLS, PTHS, and FSS, and the aspects of airway and anesthetic management that are most likely to be difficult (Figure 6). Accordingly, alternative, specialized techniques should be considered in children with these rare syndromes (Figure 7).^11,12

Figure 7. Airway management in children with rare syndromes.

BMV, bag-mask ventilation; FFB, flexible fiber-optic bronchoscopy; IM, intramuscular; LM, laryngeal mask; RSI, rapid sequence induction; VL, video laryngoscope

Difficult airways in children have been defined using several different criteria. Some syndromes with certain craniofacial features may lead to difficulty visualizing the vocal cords or placing the ETT during direct laryngoscopy. Other syndromes may have features that do not necessarily predispose to difficult intubation but can instead predispose to difficulty with obtaining a seal with a mask, resulting in the need for increasing levels of continuous positive airway pressure (CPAP), leading to insufflation of the stomach and potential aspiration.

Additionally, the prevention of a severe desaturation is an important consideration during airway management, so the relative risk for these events in children with specific rare syndromes should be considered. Finally, many other GI issues, such as delayed gastric emptying or reflux, tend to be more common in certain syndromes, leading to a risk for aspiration beyond the incidence of insufflation during ventilation, as described above.

Potential alternative techniques for CdLS patients include using a laryngeal mask airway for ventilation and placement of a smaller ETT using an FFB for intubation. The focus for PTHS should be minimal use of CPAP during ventilation, or a rapid sequence induction to decrease the risk for aspiration. In patients with FSS, a “non-asleep” method with an FFB and avoidance of succinylcholine and halogenated agents may be appropriate for intubation. Additionally, if there is an adequate mouth opening for the placement of a laryngeal mask airway, then spontaneous ventilation may be preferred for FSS patients, depending on the procedure being performed.

Regardless of the techniques used in children with rare syndromes for intubation and ventilation, the goal is to avoid problems with oxygenation, aspiration, and non-airway complications. More studies will need to focus on which techniques might be adapted from children without syndromes to those with rare ones. Protocols are needed for children with rare syndromes, specifically addressing the problems encountered due to their anatomic and physiopathologic presentations.

The experiences of clinicians, along with the perspectives and perceptions of families of children with these rare syndromes, may assist in providing improved care.

References

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