Down Syndrome

Marlene A. Soma and Sally R. Shott

History

A 6-year-old boy with Down syndrome presents to the ear, nose, and throat clinic with a 4-day history of draining ears. His mother reports that he has had nasal obstruction and rhinorrhea for many months as well. She also noted a long history of trouble breathing at night, with loud snoring, mouth breathing, and preferring to sleep in the sitting position. These symptoms improved after an adenoidectomy and tonsillectomy had been performed 18 months previously, but they had slowly returned. She was not particularly concerned about this but on further questioning admitted he was becoming more fatigued during the day and not performing his normal daytime activities as well as before.

The patient’s history was significant for requiring three previous sets of pressure-equalizing (PE) tubes for chronic otitis media with effusion. He had also had multiple episodes of croup as an infant but had not had any symptoms of this for many years. The mother denied her son having any history of cardiac or pulmonary problems. She did note, however, that her son’s gait had become somewhat unsteady, particularly after he was playing in the yard or rolling on the ground, and seemed to lose his balance more easily.

Physical examination revealed a mildly obese 6-year-old boy with the typical Down syndrome facies and an open-mouth breathing posture at rest. His external auditory canals were stenotic and filled with yellow mucoid discharge, making it difficult to visualize the tympanic membranes. He had poor nasal airflow, his inferior turbinates were slightly congested, and yellow rhinorrhea was evident. The oral cavity showed macroglossia, a small oropharynx, and tonsillar fossae that were well healed from his previous surgery. There was no cervical lymphadenopathy. He would not cooperate with flexible nasendoscopy or microscopy of the ears.

Differential Diagnosis—Key Points

Several key points in this history point to potential problems in the care of this child:

2. The child has had nasal obstructive symptoms for many months. Anatomic abnormalities of the midface in Down syndrome children can cause crowding of the nasal cavities and contribute to rhinorrhea and sinusitis. Immature immunologic development may also be a factor here. Although he has had a previous adenoidectomy, it is important to consider adenoid regrowth as a potential cause, which is more common in children with Down syndrome.

3. A previous tonsillectomy and adenoidectomy had been performed on the patient. His symptoms of sleep disordered breathing improved initially but have returned. Unfortunately, because a large percentage of children with Down syndrome have airway obstruction during sleep and sleep apnea starting at a very young age, many parents frequently assume that this is “normal” for their child and do not seek treatment. Airway obstruction in children with Down syndrome can be due to multiple levels of pathology: medially displaced tonsils in the face of midface hypoplasia and a contracted oropharynx, hypotonia with oropharyngeal and hypopharyngeal collapse during sleep, and macroglossia with its associated airway obstruction. In addition, central apnea can be seen. Although removal of the tonsils and adenoids can cure the airway obstruction in typical children, up to 50% of Down syndrome children continue to have ongoing symptoms, which may be very difficult to treat. The long-term effects of obstructive sleep apnea disorders include failure to thrive, pulmonary hypertension, and behavioral issues.

4. This child presents with a history of recurrent croup. Children with Down syndrome are known to have smaller subglottic airways than the normal population and are prone to recurrent episodes of croup. This is important from an anesthesia standpoint when intubation is being considered. It is important to use the appropriate-size endotracheal tube in this child’s airway.

5. The patient’s history of recently noted abnormal gait, particularly after active play and rolling on the ground, may be due to some coordination problems but could also be due to atlantoaxial instability and resultant compression of the spinal cord. This is of particular importance if contemplating a surgical procedure where the patient’s neck will be manipulated.

Test Interpretation

1.