It is generally agreed upon that a difficult airway is a situation when problems exist in establishing adequate ventilation via mask or artificial airway. This situation can be both unanticipated and anticipated. The scope of this discussion will consist of the anticipated difficult airway caused from genetic syndromes with craniofacial disorders. Early recognition of these syndromes increases the likelihood of a possible difficult airway being identified and proper preparation occurring. This includes both proper equipment and additional skilled personnel.
There are multiple challenges involved in managing the airway of a patient with craniofacial disorders. A thorough understanding is needed of the normal anatomy, including both bony structures and soft tissue, and how these are affected by various disorders. The resulting abnormalities can affect airway management: ventilation, intubation, or both. Well- known congenital disorders that can affect the anatomy of the airway include PierreRobinsyndrome,TreacherCollinssyndrome,Klippel-Feilsyndrome, Beckwith-Wiedemannsyndrome,Trisomy21,Freeman-Sheldonsyndrome, Goldenhar syndrome, craniofacial dysostosis (Apert syndrome), as well as mucopolysaccharidosis syndromes that include Hunter and Hurler syndromes.Followingisabriefdiscussionofthesedisordersandtheirassociated anatomic abnormalities.
Pierre Robin Syndrome. This disorder is characterized by severe micrognathia, glossoptosis, and cleft soft palate, or cleft lip. Relaxation of the soft tissue in the oropharynx can lead to total airway obstruction as the tongue falls posteriorly. Ventilation by mask can be difficult; therefore, airway management often requires additional planning and the availability of alternate methods and skilled providers to establish the airway. This can include the laryngeal mask airway and a fiberoptic scope.
Treacher Collins Syndrome. This disorder is characterized by maxillary, zygomatic, and mandibular hypoplasia. Additional features that can affect airway include a small mouth and high arched palate. Secondary issues can consist of cleft palate and velopharyngeal incompetence. If temporomandibular joint abnormalities are present, mask ventilation and intubation can be very difficult, if not impossible. As patients age, airway issues become more difficult. Severe airway obstruction can occur and may necessitate a tracheostomy.
Klippel-Feil Syndrome. Characterized by atlanto-occipital abnormalities, fusion of cervical vertebrae, scoliosis, and stenosis of the spinal cord. Although bag–mask ventilation is often not difficult, the limitation in movementofthecervicalvertebraemakeintubationverydifficult.Oftenafiberoptic scope or laryngeal mask airway are needed to intubate the patient, as aggressive manipulation of the cervical spine can result in injury.
Beckwith-Wiedemann Syndrome. Large protuberant tongue, exomphalos, and giantism are key characteristics. The large tongue can cause airway obstruction severe enough to result in cor pulmonale over time. Bag–mask ventilation is difficult, as the tongue remains in the mouth and can cause obstruction; this should be avoided. However, intubation can be achieved because the tongue can be moved out of the way with a laryngoscope.
Trisomy 21. This is the most common chromosomal disorder affecting the airway. Abnormal characteristics that may be present and affect the airway in thesepatientsincludelargefissuredtongue,atlanto-occipitalandatlantoaxial instability, and hypoplastic nasal bone and subglottic stenosis. Due to the possible presence of subglottic stenosis, an endotracheal tube smaller than expectedforagemaybeneededforintubation.Thesepatientsobstructeasily and an oral airway is often needed to mask ventilate.
Freeman-Sheldon Syndrome. This is a rare myopathic dysplastic disorder. Patients with this disorder are at higher risk for malignant hyperthermia. Therefore, rapid sequence induction for establishing an airway using succinylcholine is not recommended. Patients have masklike facies due to contraction of the soft tissue and musculature of the face, with microstomia and circumoral fibrosis. Additionally, some patients will have contractures that limit neck movement, resulting in difficult intubation.
Goldenhar Syndrome. This syndrome is variant of hemifacial microsomia. Mandibular hypoplasia, auricular abnormalities, overlying soft-tissue loss, and facial nerve involvement are key features in hemifacial microsomia, and are often asymmetric in nature. As the severity of the mandibular deformity increases, the level of difficulty in intubation increases. The additional features of vertebral abnormalities and macrostomia characterize Goldenhar syndrome. The vertebral abnormalities may be total fusion or hemivertebrae that result in decreased flexion and extension, resulting in a more difficult intubation.
Apert Syndrome. This syndrome is also known as craniofacial dysostosis. Midface hypoplasia, craniosynostosis, high arched palate, proptosis, and some degree of choanal stenosis characterize this disorder. Due to the abnormalities, mask ventilation can be difficult, as the tongue can fill the small oral cavity. This can be overcome by holding the mouth open slightly during mask ventilation. Unless an issue with cervical spine mobility is present, intubation is generally not very difficult; however, a smaller tube may be needed for patients with tracheal ring abnormalities.
Hunter and Hurler Syndromes. Both variants in the mucopolysaccharidoses group of genetic disorders are characterized by varying enzyme production that affects mucopolysaccharides in the body. Mucopolysaccharides accumulate in the body secondary to enzyme deficiencies. This affects the airway, as deposits cause tongue enlargement, soft tissue in the oropharynx becomes thickened, and redundant tissue is present and nasal passages become blocked. All of these issues result in worsening airway obstruction over time and increased difficulty in mask ventilation and intubation.
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Copyright notice for book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.
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More About This Book:
Title: Avoiding Common Pediatric Errors Authors: Anthony D Slonim MD, DrPH; Lisa Marcucci MD Publisher: Lippincott Williams & Wilkins Copyright: 2008 ISBN: 0-7817-7489-6 
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